Varaico: Literature-Extracted Genetic Variants

Gene:BNC2
Variant:p.E201A

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
1 paper
NM_017637.6
p.E201A
c.602A>C
Surrounding Variants
1 paper
NM_017637.6
p.V202A
c.605T>C
1 paper
NM_017637.6
p.Q199P
c.596A>C
1 paper
NM_017637.6
p.R192H
c.575G>A
1 paper
NM_017637.6
p.W211C
c.633G>T
1 paper
NM_017637.6
p.W211C
c.633G>C
1 paper
NM_017637.6
p.L190L
c.568C>T
1 paper
NM_017637.6
p.R214W
c.640C>T
1 paper
NM_017637.6
p.Y216N
c.646T>A
1 paper
NM_017637.6
p.Q223H
c.669G>T
1 paper
NM_017637.6
p.T158I
c.473C>T
1 paper
NM_017637.6
p.P157H
c.470C>A
2 papers
NM_017637.6
p.Q152R
c.455A>G
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