NKX2-3

NK2 homeobox 3

Summary

This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010]

Known Variants29 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1088336910:101,291,367C/A
rs1119014010:101,291,593T/Cupstream gene variant
rs1119014110:101,292,390C/Tregulatory region variant
rs37261838910:101,292,959A/Guncertain significance
rs19996304410:101,293,025T/Cuncertain significance
rs4129050410:101,293,035C/Asynonymous variant
rs75333529510:101,293,039G/Auncertain significance
rs75449895010:101,293,043G/Auncertain significance
rs131773752210:101,293,088G/Cuncertain significance
rs37088589710:101,293,141T/Guncertain significance
rs249426012210:101,293,185C/Guncertain significance
rs249426014210:101,293,195G/Auncertain significance
rs74581798210:101,293,208A/Guncertain significance
rs78025446810:101,293,219C/Auncertain significance
rs77445316110:101,293,234G/Tuncertain significance
rs203395342410:101,294,835C/Tuncertain significance
rs18460131310:101,294,851G/Alikely benign
rs74730552210:101,294,885A/Guncertain significance
rs36995402010:101,294,997G/Auncertain significance
rs77295209810:101,295,062G/Auncertain significance
rs132407295710:101,295,086G/Cuncertain significance
rs124188210610:101,295,125G/Auncertain significance
rs249426422010:101,295,170C/Tuncertain significance
rs139188848110:101,295,229A/Tlikely benign
rs90399612310:101,295,232A/Tlikely benign
rs136110513710:101,295,245A/Guncertain significance
rs118112207710:101,295,303C/Tuncertain significance
rs15105394110:101,295,456T/Gmissense variant
rs88820810:101,295,863A/Gupstream gene variant

Gene information from NCBI Gene. Variant classifications from ClinVar.