Varaico: Literature-Extracted Genetic Variants

Gene:HEPACAM
Variant:p.K68N

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.K68N
c.204G>T
Surrounding Variants
1 paper
NM_152722.5
p.K68N
c.204G>C
5 papers
NM_152722.5
p.K68M
c.203A>T
1 paper
NM_152722.5
p.K68R
c.203A>G
1 paper
NM_152722.5
p.K68E
c.202A>G
1 paper
NM_152722.5
p.W69C
c.207G>T
1 paper
NM_152722.5
p.P65P
c.195T>C
3 papers
NM_152722.5
p.R73W
c.217C>T
1 paper
NM_152722.5
p.R73Q
c.218G>A
1 paper
NM_152722.5
p.R64G
c.190A>G
1 paper
NM_152722.5
p.S59N
c.176G>A
1 paper
NM_152722.5
p.V79M
c.235G>A
1 paper
NM_152722.5
p.V80V
c.240G>A
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