Varaico: Literature-Extracted Genetic Variants

Gene:BNC2
Variant:p.W96R

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.W96R
c.286T>A
Surrounding Variants
1 paper
NM_017637.6
p.W96R
c.286T>C
1 paper
NM_017637.6
p.M93I
c.279G>T
1 paper
NM_017637.6
p.M93I
c.279G>C
1 paper
NM_017637.6
p.M93I
c.279G>A
1 paper
NM_017637.6
p.N98K
c.294C>A
1 paper
NM_017637.6
p.A99T
c.295G>A
1 paper
NM_017637.6
p.F92L
c.276C>G
1 paper
NM_017637.6
p.F92L
c.276C>A
1 paper
NM_017637.6
p.F92L
c.274T>C
1 paper
NM_017637.6
p.D100Y
c.298G>T
1 paper
NM_017637.6
p.T101A
c.301A>G
1 paper
NM_017637.6
p.T101I
c.302C>T
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