HNRNPH1
heterogeneous nuclear ribonucleoprotein H1
Summary
This gene encodes a member of a subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA. These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some may shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNA and is very similar to the family member HNRPF. This gene may be associated with hereditary lymphedema type I. Alternatively spliced transcript variants have been described [provided by RefSeq, Mar 2012]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2127607013 | 5:179,043,156 | T/A | — | uncertain significance |
| rs75597542 | 5:179,043,197 | G/A | — | benign |
| rs201696570 | 5:179,043,924 | C/G | — | uncertain significance |
| rs2532612297 | 5:179,043,951 | A/G | — | uncertain significance |
| rs2532618408 | 5:179,044,033 | C/T | — | uncertain significance |
| rs1308577273 | 5:179,044,064 | C/T | — | uncertain significance |
| rs113857707 | 5:179,044,102 | T/C | — | uncertain significance |
| rs2532621595 | 5:179,044,109 | G/C | — | uncertain significance |
| rs2532662810 | 5:179,044,608 | C/G | — | uncertain significance |
| rs2532663080 | 5:179,044,616 | A/T | — | pathogenic |
| rs2532664814 | 5:179,044,638 | G/A | — | uncertain significance |
| rs2127628178 | 5:179,044,641 | G/A | — | uncertain significance |
| rs2532679270 | 5:179,044,823 | C/T | — | uncertain significance |
| rs2532681560 | 5:179,044,870 | T/C | — | uncertain significance |
| rs1260810609 | 5:179,045,004 | T/A | — | uncertain significance |
| rs2127633282 | 5:179,045,061 | C/A | — | uncertain significance |
| rs4701143 | 5:179,045,142 | G/A | — | benign |
| rs1408974367 | 5:179,045,164 | G/A | — | uncertain significance |
| rs933313523 | 5:179,045,184 | G/A | — | uncertain significance |
| rs1770700791 | 5:179,045,193 | C/A | — | uncertain significance |
| rs766878481 | 5:179,045,197 | T/C | — | uncertain significance |
| rs2532711553 | 5:179,045,244 | C/T | — | pathogenic |
| rs1770718566 | 5:179,045,245 | G/A | — | pathogenic |
| rs2127636119 | 5:179,045,266 | G/A | — | likely pathogenic |
| rs34431802 | 5:179,045,270 | T/C | — | benign |
| rs114471407 | 5:179,045,767 | C/T | regulatory region variant | — |
| rs2127671660 | 5:179,047,900 | G/C | — | uncertain significance |
| rs1772040461 | 5:179,047,950 | G/A | — | likely pathogenic |
| rs2127675169 | 5:179,048,312 | C/G | — | uncertain significance |
| rs2127710126 | 5:179,050,074 | A/G | — | uncertain significance |
| rs967722601 | 5:179,050,092 | C/T | — | uncertain significance |
| rs2127710612 | 5:179,050,127 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.