Varaico: Literature-Extracted Genetic Variants

Gene:HEPACAM
Variant:p.S106T

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.S106T
c.316T>A
Surrounding Variants
1 paper
NM_152722.5
p.L108delFs
c.323delA
1 paper
NM_152722.5
p.L101L
c.303C>G
1 paper
NM_152722.5
p.D111N
c.331G>A
2 papers
NM_152722.5
p.R100*
c.298C>T
1 paper
NM_152722.5
p.R98R
c.294T>C
4 papers
NM_152722.5
p.R98H
c.293G>A
9 papers
NM_152722.5
p.R98C
c.292C>T
1 paper
NM_152722.5
p.R96R
c.288A>C
1 paper
NM_152722.5
p.R96L
c.287G>T
1 paper
NM_152722.5
p.Q113_G118Fs
c.337_353delinsGFs
3 papers
NM_152722.5
p.P93L
c.278C>T
1 paper
NM_152722.5
p.P93R
c.278C>G
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