HEATR5B
HEAT repeat containing 5B
Summary
Predicted to be involved in endocytosis; protein localization; and retrograde transport, endosome to Golgi. Located in Golgi apparatus; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants95 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs750598603 | 2:37,208,689 | G/A | — | uncertain significance |
| rs1405600554 | 2:37,208,694 | C/T | — | uncertain significance |
| rs142274487 | 2:37,208,734 | C/T | — | uncertain significance |
| rs2465891096 | 2:37,208,739 | G/A | — | uncertain significance |
| rs773610263 | 2:37,208,769 | G/A | — | uncertain significance |
| rs2541007 | 2:37,211,881 | C/A | — | — |
| rs1363118267 | 2:37,215,813 | C/T | — | uncertain significance |
| rs762648818 | 2:37,215,848 | G/A | — | uncertain significance |
| rs761834580 | 2:37,215,906 | C/A | — | uncertain significance |
| rs373768266 | 2:37,215,912 | T/C | — | uncertain significance |
| rs762591962 | 2:37,215,918 | C/A | — | uncertain significance |
| rs766983676 | 2:37,215,950 | C/T | — | uncertain significance |
| rs750970688 | 2:37,215,987 | A/T | — | uncertain significance |
| rs142247811 | 2:37,217,852 | T/A | — | uncertain significance |
| rs147817576 | 2:37,217,894 | G/A | — | uncertain significance |
| rs1459948185 | 2:37,227,783 | A/C | — | uncertain significance |
| rs867984219 | 2:37,227,813 | C/T | — | uncertain significance |
| rs776889864 | 2:37,227,816 | T/A | — | uncertain significance |
| rs754758088 | 2:37,227,857 | C/T | — | uncertain significance |
| rs535096898 | 2:37,227,864 | G/A | — | uncertain significance |
| rs1428834173 | 2:37,227,885 | C/T | — | uncertain significance |
| rs369612034 | 2:37,227,892 | T/C | — | uncertain significance |
| rs763976267 | 2:37,229,526 | A/G | — | uncertain significance |
| rs1056827062 | 2:37,229,548 | G/C | — | uncertain significance |
| rs1260625913 | 2:37,229,618 | C/T | — | uncertain significance |
| rs776379717 | 2:37,229,688 | C/T | — | uncertain significance |
| rs573625591 | 2:37,229,705 | A/T | — | uncertain significance |
| rs1667163007 | 2:37,229,716 | C/T | — | likely pathogenic |
| rs1667224478 | 2:37,230,681 | T/C | — | likely pathogenic |
| rs765709305 | 2:37,230,692 | G/T | — | uncertain significance |
| rs1667364188 | 2:37,232,772 | T/C | — | uncertain significance |
| rs373019505 | 2:37,232,791 | T/C | — | uncertain significance |
| rs2466087866 | 2:37,232,811 | G/C | — | uncertain significance |
| rs765350195 | 2:37,232,832 | C/G | — | uncertain significance |
| rs2466089070 | 2:37,232,894 | T/C | — | uncertain significance |
| rs1454642872 | 2:37,234,240 | G/A | — | uncertain significance |
| rs893846419 | 2:37,234,279 | G/T | — | uncertain significance |
| rs763588091 | 2:37,234,289 | G/A | — | uncertain significance |
| rs748442326 | 2:37,234,312 | G/A | — | uncertain significance |
| rs371197128 | 2:37,234,336 | G/A | — | uncertain significance |
| rs767969216 | 2:37,234,433 | T/C | — | uncertain significance |
| rs149680203 | 2:37,235,831 | C/T | — | uncertain significance |
| rs1039114832 | 2:37,241,051 | G/C | — | uncertain significance |
| rs61689754 | 2:37,244,357 | G/A | intron variant | — |
| rs763704720 | 2:37,246,965 | G/A | — | uncertain significance |
| rs781367341 | 2:37,246,999 | C/T | — | uncertain significance |
| rs547265472 | 2:37,247,016 | C/G | — | uncertain significance |
| rs773669092 | 2:37,247,847 | G/C | — | uncertain significance |
| rs17020136 | 2:37,248,015 | T/G | — | — |
| rs1325574931 | 2:37,255,071 | G/A | — | uncertain significance |
| rs1482176852 | 2:37,255,078 | G/C | — | uncertain significance |
| rs560096586 | 2:37,255,163 | G/A | — | likely benign |
| rs773476767 | 2:37,255,314 | A/G | — | uncertain significance |
| rs1187216693 | 2:37,255,866 | G/A | — | uncertain significance |
| rs1558751662 | 2:37,255,916 | T/C | — | uncertain significance |
| rs763901341 | 2:37,255,987 | T/G | — | uncertain significance |
| rs889341539 | 2:37,259,792 | T/C | — | uncertain significance |
| rs774231805 | 2:37,259,882 | C/T | — | uncertain significance |
| rs753918735 | 2:37,265,016 | G/C | — | uncertain significance |
| rs2466417972 | 2:37,265,030 | C/G | — | uncertain significance |
| rs369652571 | 2:37,265,159 | C/T | — | uncertain significance |
| rs148086344 | 2:37,267,614 | C/T | — | likely benign |
| rs921432694 | 2:37,268,289 | G/T | — | uncertain significance |
| rs368719453 | 2:37,276,896 | G/T | — | uncertain significance |
| rs2466584273 | 2:37,283,652 | C/A | — | uncertain significance |
| rs144424975 | 2:37,284,546 | G/C | — | uncertain significance |
| rs752438304 | 2:37,284,567 | A/T | — | uncertain significance |
| rs779137347 | 2:37,286,041 | T/C | — | uncertain significance |
| rs1246086964 | 2:37,286,113 | C/G | — | uncertain significance |
| rs141188571 | 2:37,287,766 | T/C | — | uncertain significance |
| rs201860358 | 2:37,287,777 | C/T | — | uncertain significance |
| rs2466625608 | 2:37,287,871 | A/T | — | uncertain significance |
| rs1238592643 | 2:37,289,128 | C/T | — | likely benign |
| rs369632588 | 2:37,289,163 | G/A | — | likely pathogenic |
| rs1311843523 | 2:37,291,918 | G/A | — | uncertain significance |
| rs534331425 | 2:37,292,026 | T/C | — | uncertain significance |
| rs142844571 | 2:37,293,003 | T/C | — | uncertain significance |
| rs202230079 | 2:37,295,830 | C/T | — | uncertain significance |
| rs1671731905 | 2:37,295,913 | G/A | — | uncertain significance |
| rs540012012 | 2:37,295,928 | G/A | — | uncertain significance |
| rs781546017 | 2:37,295,994 | T/C | — | uncertain significance |
| rs749712683 | 2:37,296,006 | G/C | — | uncertain significance |
| rs1671828381 | 2:37,297,426 | T/C | — | uncertain significance |
| rs150905156 | 2:37,297,435 | C/T | — | uncertain significance |
| rs749105336 | 2:37,297,474 | T/C | — | uncertain significance |
| rs770568538 | 2:37,297,483 | G/C | — | uncertain significance |
| rs778954238 | 2:37,299,384 | G/C | — | uncertain significance |
| rs866629390 | 2:37,302,707 | G/A | — | uncertain significance |
| rs555610476 | 2:37,304,059 | C/T | — | uncertain significance |
| rs759479489 | 2:37,304,161 | C/A | — | uncertain significance |
| rs745951911 | 2:37,306,372 | C/T | — | uncertain significance |
| rs1227118409 | 2:37,306,393 | T/C | — | uncertain significance |
| rs146112658 | 2:37,306,411 | G/A | — | uncertain significance |
| rs754326420 | 2:37,310,485 | A/G | — | uncertain significance |
| rs769800793 | 2:37,310,523 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.