Varaico: Literature-Extracted Genetic Variants

Gene:HEPACAM2
Variant:p.Q47R

HEPACAM2

26 papers

RefSeq Summary

This gene encodes a protein related to the immunoglobulin superfamily that plays a role in mitosis. Knockdown of this gene results in prometaphase arrest, abnormal nuclear morphology and apoptosis. Po...

Pfam Domains

Ig_3aa 148–223UCSCImmunoglobulin domain
Ig_3aa 148–223UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

HEPACAM family member 2

HGNC Alias Symbol

FLJ38683

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001039372.4
p.Q47R
c.140A>G
Surrounding Variants
1 paper
NM_001039372.4
p.V53I
c.157G>A
1 paper
NM_001039372.4
p.V41I
c.121G>A
1 paper
NM_001039372.4
p.G31R
c.91G>C
1 paper
NM_001039372.4
p.G31R
c.91G>A
1 paper
NM_001039372.4
p.Q65*
c.193C>T
1 paper
NM_001039372.4
p.G27S
c.79G>A
1 paper
NM_001039372.4
p.P73L
c.218C>T
1 paper
NM_001039372.4
p.P77P
c.231C>G
1 paper
NM_001039372.4
p.K86T
c.257A>C
1 paper
NM_001039372.4
p.Y94N
c.280T>A
1 paper
NM_001039372.4
p.P103T
c.307C>A
1 paper
NM_001039372.4
p.S106T
c.316T>A
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