Varaico: Literature-Extracted Genetic Variants

Gene:BNC2
Variant:p.S533R

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.S533R
c.1599C>G
Surrounding Variants
1 paper
NM_017637.6
p.S533R
c.1599C>A
1 paper
NM_017637.6
p.S533R
c.1597A>C
1 paper
NM_017637.6
p.R536*
c.1606C>T
1 paper
NM_017637.6
p.R536Q
c.1607G>A
2 papers
NM_017637.6
p.M539V
c.1615A>G
1 paper
NM_017637.6
p.M539R
c.1616T>G
1 paper
NM_017637.6
p.P544S
c.1630C>T
1 paper
NM_017637.6
p.G516*
c.1546G>T
1 paper
NM_017637.6
p.V559L
c.1675G>T
1 paper
NM_017637.6
p.V559L
c.1675G>C
1 paper
NM_017637.6
p.V566I
c.1696G>A
1 paper
NM_017637.6
p.M499L
c.1495A>T
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