Varaico: Literature-Extracted Genetic Variants

Gene:BNC2
Variant:p.Y722S

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.Y722S
c.2165A>C
Surrounding Variants
1 paper
NM_017637.6
p.E730D
c.2190G>T
1 paper
NM_017637.6
p.E730D
c.2190G>C
1 paper
NM_017637.6
p.G734S
c.2200G>A
1 paper
NM_017637.6
p.E736D
c.2208A>T
1 paper
NM_017637.6
p.E736D
c.2208A>C
1 paper
NM_017637.6
p.R702M
c.2105G>T
1 paper
NM_017637.6
p.E747K
c.2239G>A
1 paper
NM_017637.6
p.D760E
c.2280T>G
1 paper
NM_017637.6
p.D760E
c.2280T>A
1 paper
NM_017637.6
p.P766S
c.2296C>T
1 paper
NM_017637.6
p.V771F
c.2311G>T
1 paper
NM_017637.6
p.V771I
c.2311G>A
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