Varaico: Literature-Extracted Genetic Variants

Gene:HEPACAM
Variant:p.S196Y

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
6 papers
NM_152722.5
p.S196Y
c.587C>A
Surrounding Variants
2 papers
NM_152722.5
p.D198N
c.592G>A
1 paper
NM_152722.5
p.L194L
c.582C>T
1 paper
NM_152722.5
p.L194Fs
c.580_582delinsTTFs
1 paper
NM_152722.5
p.L194fs
c.580_581fs
1 paper
NM_152722.5
p.D198_Q199delFs
c.594_597del4
1 paper
NM_152722.5
p.Q199delFs
c.597delT
1 paper
NM_152722.5
p.S191L
c.572C>T
1 paper
NM_152722.5
p.V201V
c.603G>A
1 paper
NM_152722.5
p.L202F
c.604C>T
1 paper
NM_152722.5
p.T205I
c.614C>T
1 paper
NM_152722.5
p.R206C
c.616C>T
1 paper
NM_152722.5
p.V207M
c.619G>A
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