Varaico: Literature-Extracted Genetic Variants

Gene:HEPACAM
Variant:p.D129A

HEPACAM

109 papers

RefSeq Summary

The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell m...

Pfam Domains

V-setaa 37–142UCSCImmunoglobulin V-set domain
Ig_3aa 147–221UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

hepatic and glial cell adhesion molecule

HGNC Alias Symbols

FLJ25530; GLIALCAM

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152722.5
p.D129A
c.386A>C
Surrounding Variants
1 paper
NM_152722.5
p.D129N
c.385G>A
9 papers
NM_152722.5
p.D128N
c.382G>A
2 papers
NM_152722.5
p.T127T
c.381C>T
5 papers
NM_152722.5
p.T132N
c.395C>A
1 paper
NM_152722.5
p.G133R
c.397G>C
1 paper
NM_152722.5
p.G133R
c.397G>A
1 paper
NM_152722.5
p.S125P
c.373T>C
5 papers
NM_152722.5
p.K135del1
c.403_404delCTT
2 papers
NM_152722.5
p.N138S
c.413A>G
1 paper
NM_152722.5
p.L139P
c.416T>C
1 paper
NM_152722.5
p.Q113_G118Fs
c.337_353delinsGFs
1 paper
NM_152722.5
p.D111N
c.331G>A
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