Varaico: Literature-Extracted Genetic Variants

Gene:BNC2
Variant:p.E55D

BNC2

129 papers

RefSeq Summary

This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associat...

Pfam Domains

zf-metaa 441–462UCSCZinc-finger of C2H2 type
zf-C2H2aa 1035–1058UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

basonuclin zinc finger protein 2

HGNC Alias Symbols

BSN2; FLJ20043; bn2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_017637.6
p.E55D
c.165G>C
Surrounding Variants
2 papers
NM_017637.6
p.E55D
c.165G>T
1 paper
NM_017637.6
p.R52R
c.156A>G
1 paper
NM_017637.6
p.R52T
c.155G>C
1 paper
NM_017637.6
p.E46_V51del0
c.138_152del15
1 paper
NM_017637.6
p.D59fs
c.175_176fs
1 paper
NM_017637.6
p.V49insFs
c.146_147ins4
1 paper
NM_001317939.2
p.A5T
c.13G>A
1 paper
NM_017637.6
p.R66K
c.197G>A
1 paper
NM_017637.6
p.C74Y
c.221G>A
1 paper
NM_017637.6
p.T75A
c.223A>G
1 paper
NM_017637.6
p.M79V
c.235A>G
1 paper
NM_017637.6
p.T75_Q80insFs
c.224_240dup17
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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."