Varaico: Literature-Extracted Genetic Variants

Gene:HEPACAM
Variant:p.P176_S177ins0

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.P176_S177ins0
c.528_530dupCAG
Surrounding Variants
1 paper
NM_152722.5
p.P176ins0
c.526_528dupCCC
1 paper
NM_152722.5
p.N172delFs
c.514_515delTT
4 papers
NM_152722.5
p.D183G
c.548A>G
1 paper
NM_152722.5
p.H170Q
c.510T>A
3 papers
NM_152722.5
p.S169P
c.505T>C
1 paper
NM_152722.5
p.S191L
c.572C>T
1 paper
NM_152722.5
p.L194fs
c.580_581fs
1 paper
NM_152722.5
p.L194L
c.582C>T
1 paper
NM_152722.5
p.L194Fs
c.580_582delinsTTFs
6 papers
NM_152722.5
p.S196Y
c.587C>A
2 papers
NM_152722.5
p.D198N
c.592G>A
1 paper
NM_152722.5
p.L151_T156delFs
c.452_467del16
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."