Varaico: Literature-Extracted Genetic Variants

Gene:HEPACAM
Variant:p.M1L

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.M1L
c.1A>C
Surrounding Variants
1 paper
NM_152722.5
p.M1insFs
c.2dupT
1 paper
NM_152722.5
p.K2insFs
c.4_5insT
1 paper
NM_152722.5
p.R13R
c.39G>A
2 papers
NM_152722.5
p.A14A
c.42C>T
1 paper
NM_152722.5
p.R16H
c.47G>A
1 paper
NM_152722.5
p.V21insFs
c.61dupG
1 paper
NM_152722.5
p.L23F
c.67C>T
6 papers
NM_152722.5
p.L23H
c.68T>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."