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/Cuncertain significance
rs53928019516:476,031C/Tuncertain significance
rs129651054616:476,050C/Tuncertain significance
rs55429330116:476,086C/Guncertain significance
rs188337116:476,096A/Glikely benign
rs54263019616:476,120G/Alikely benign
rs97151264816:476,130G/Auncertain significance
rs143922888716:476,149C/Guncertain significance
rs93375035516:476,227C/Tuncertain significance
rs138816075016:476,229G/Auncertain significance
rs205494020116:476,293C/Auncertain significance
rs254864295116:476,317A/Cuncertain significance
rs77601002316:476,335C/Auncertain significance
rs76974413116:476,341C/Guncertain significance
rs77959726516:476,368C/Auncertain significance
rs77755539616:476,392C/Tuncertain significance
rs20131396116:476,437G/Tuncertain significance
rs53883835516:476,464G/Auncertain significance
rs76581928916:476,493C/Guncertain significance
rs78074558116:476,551C/Tuncertain significance
rs94109092016:476,555G/Cuncertain significance
rs130718082316:476,559T/Guncertain significance
rs77995922816:476,560C/Tuncertain significance
rs20030429516:476,561G/Cbenign
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/Auncertain significance
rs14332858116:521,298C/Tuncertain significance
rs37066394416:521,314C/Tlikely benign
rs254870708416:521,319G/Auncertain significance
rs13928899016:521,358C/Tuncertain 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/Auncertain significance
rs77522185016:532,656C/Tlikely benign
rs37713340316:532,693A/Guncertain significance
rs53823325216:532,694T/Cuncertain significance
rs11465462016:532,705G/Abenign
rs76840425516:532,725G/Tlikely benign
rs77877656316:532,729C/Tuncertain significance
rs77130137116:532,733G/Tuncertain significance
rs52996747216:534,795T/C
rs719186816:536,090G/T
rs13983674716:538,893C/Tbenign
rs3553816516:538,938G/Abenign
rs15093796716:538,995G/Alikely benign
rs217976816:540,500G/Aupstream gene variant
rs804653816:544,479G/Adownstream gene variant
rs7348130616:552,731A/C
rs127158664016:553,011C/Tuncertain significance
rs53034509016:553,038G/Tuncertain significance
rs203161947716:553,062C/Tuncertain significance
rs14450021116:553,517G/Aintron variant
rs101493855116:560,662C/Tuncertain significance
rs37739991816:560,731G/Auncertain significance
rs203210538216:560,784G/Auncertain significance
rs75995749316:569,008T/Cuncertain significance
rs20167416616:569,022G/Auncertain significance
rs140749845516:569,814G/Auncertain significance
rs78169763716:569,816G/Cuncertain significance
rs37641510716:569,821A/Glikely benign
rs129103394716:569,839G/Auncertain significance
rs138398059416:569,871G/Cuncertain significance
rs135209534816:570,188C/Tuncertain significance
rs37107876216:570,189G/Auncertain significance
rs57067439016:570,200A/Guncertain significance
rs53489425916:570,225A/Guncertain significance
rs14824280816:570,305A/Gintron variant
rs77506038516:570,558G/Auncertain significance
rs36757445016:570,720C/Tlikely benign
rs90957011316:570,765C/Tuncertain significance
rs250566985216:570,796T/Cuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.