Varaico: Literature-Extracted Genetic Variants

Gene:HEPACAM
Variant:p.V207M

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.V207M
c.619G>A
Surrounding Variants
1 paper
NM_152722.5
p.R206C
c.616C>T
1 paper
NM_152722.5
p.T205I
c.614C>T
6 papers
NM_152722.5
p.D211N
c.631G>A
1 paper
NM_152722.5
p.D212N
c.634G>A
1 paper
NM_152722.5
p.L202F
c.604C>T
1 paper
NM_152722.5
p.V201V
c.603G>A
2 papers
NM_152722.5
p.D213N
c.637G>A
1 paper
NM_152722.5
p.Q199delFs
c.597delT
1 paper
NM_152722.5
p.L214insFs
c.640_641insG
1 paper
NM_152722.5
p.D198_Q199delFs
c.594_597del4
2 papers
NM_152722.5
p.D198N
c.592G>A
6 papers
NM_152722.5
p.S196Y
c.587C>A
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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."