RAB11FIP3

RAB11 family interacting protein 3

Summary

Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008]

Known Variants78 total

rsidPosition (GRCh37)AllelesClassClinVar
rs134435182516:476,025G/C—uncertain significance
rs53928019516:476,031C/T—uncertain significance
rs129651054616:476,050C/T—uncertain significance
rs55429330116:476,086C/G—uncertain significance
rs188337116:476,096A/G—likely benign
rs54263019616:476,120G/A—likely benign
rs97151264816:476,130G/A—uncertain significance
rs143922888716:476,149C/G—uncertain significance
rs93375035516:476,227C/T—uncertain significance
rs138816075016:476,229G/A—uncertain significance
rs205494020116:476,293C/A—uncertain significance
rs254864295116:476,317A/C—uncertain significance
rs77601002316:476,335C/A—uncertain significance
rs76974413116:476,341C/G—uncertain significance
rs77959726516:476,368C/A—uncertain significance
rs77755539616:476,392C/T—uncertain significance
rs20131396116:476,437G/T—uncertain significance
rs53883835516:476,464G/A—uncertain significance
rs76581928916:476,493C/G—uncertain significance
rs78074558116:476,551C/T—uncertain significance
rs94109092016:476,555G/C—uncertain significance
rs130718082316:476,559T/G—uncertain significance
rs77995922816:476,560C/T—uncertain significance
rs20030429516:476,561G/C—benign
rs37306473716:502,726G/A——
rs37713480816:505,445G/C——
rs992655716:505,612T/Gdownstream gene variant—
rs1293224416:510,417C/Tintron variant—
rs14387016616:510,460C/T——
rs78041621516:511,494G/A—uncertain significance
rs14332858116:521,298C/T—uncertain significance
rs37066394416:521,314C/T—likely benign
rs254870708416:521,319G/A—uncertain significance
rs13928899016:521,358C/T—uncertain significance
rs57016861816:522,543G/T——
rs720644716:525,812A/Tintron variant—
rs2867889716:527,485G/Aregulatory region variant—
rs14175908516:530,967A/C——
rs14268970216:531,056G/Aintron variant—
rs95337261116:532,639G/A—uncertain significance
rs77522185016:532,656C/T—likely benign
rs37713340316:532,693A/G—uncertain significance
rs53823325216:532,694T/C—uncertain significance
rs11465462016:532,705G/A—benign
rs76840425516:532,725G/T—likely benign
rs77877656316:532,729C/T—uncertain significance
rs77130137116:532,733G/T—uncertain significance
rs52996747216:534,795T/C——
rs719186816:536,090G/T——
rs13983674716:538,893C/T—benign
rs3553816516:538,938G/A—benign
rs15093796716:538,995G/A—likely benign
rs217976816:540,500G/Aupstream gene variant—
rs804653816:544,479G/Adownstream gene variant—
rs7348130616:552,731A/C——
rs127158664016:553,011C/T—uncertain significance
rs53034509016:553,038G/T—uncertain significance
rs203161947716:553,062C/T—uncertain significance
rs14450021116:553,517G/Aintron variant—
rs101493855116:560,662C/T—uncertain significance
rs37739991816:560,731G/A—uncertain significance
rs203210538216:560,784G/A—uncertain significance
rs75995749316:569,008T/C—uncertain significance
rs20167416616:569,022G/A—uncertain significance
rs140749845516:569,814G/A—uncertain significance
rs78169763716:569,816G/C—uncertain significance
rs37641510716:569,821A/G—likely benign
rs129103394716:569,839G/A—uncertain significance
rs138398059416:569,871G/C—uncertain significance
rs135209534816:570,188C/T—uncertain significance
rs37107876216:570,189G/A—uncertain significance
rs57067439016:570,200A/G—uncertain significance
rs53489425916:570,225A/G—uncertain significance
rs14824280816:570,305A/Gintron variant—
rs77506038516:570,558G/A—uncertain significance
rs36757445016:570,720C/T—likely benign
rs90957011316:570,765C/T—uncertain significance
rs250566985216:570,796T/C—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.