Varaico: Literature-Extracted Genetic Variants

Gene:HEPACAM
Variant:p.G45_T46insFs

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
2 papers
NM_152722.5
p.G45_T46insFs
c.135_136insC
Surrounding Variants
1 paper
NM_152722.5
p.G45delFs
c.135delG
1 paper
NM_152722.5
p.T46delFs
c.136delT
3 papers
NM_152722.5
p.V47M
c.139G>A
2 papers
NM_152722.5
p.G45S
c.133G>A
1 paper
NM_152722.5
p.I43N
c.128T>A
1 paper
NM_152722.5
p.P39P
c.117C>T
1 paper
NM_152722.5
p.T37_S38insFs
c.111_112dupCA
1 paper
NM_152722.5
p.T37insFs
c.110_111insGC
3 papers
NM_152722.5
p.Q56*
c.166C>T
6 papers
NM_152722.5
p.Q56P
c.167A>C
1 paper
NM_152722.5
p.N35S
c.104A>G
1 paper
NM_152722.5
p.V34M
c.100G>A
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