Varaico: Literature-Extracted Genetic Variants

Gene:HEPACAM
Variant:p.P148S

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
6 papers
NM_152722.5
p.P148S
c.442C>T
Surrounding Variants
4 papers
NM_152722.5
p.S146L
c.437C>T
1 paper
NM_152722.5
p.V150delFs
c.448delC
1 paper
NM_152722.5
p.L151fs
c.451_452fs
1 paper
NM_152722.5
p.V150_V152delFs
c.449_455del7
1 paper
NM_152722.5
p.S154insFs
c.460_461ins5
1 paper
NM_152722.5
p.S154insFs
c.460_461insCC
1 paper
NM_152722.5
p.S154fs
c.460_461fs
1 paper
NM_152722.5
p.V152_S154insFs
c.456_460dup5
1 paper
NM_152722.5
p.S154delFs
c.461_462delTG
1 paper
NM_152722.5
p.L151_T156delFs
c.452_467del16
3 papers
NM_152722.5
p.S169P
c.505T>C
1 paper
NM_152722.5
p.H170Q
c.510T>A
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