Varaico: Literature-Extracted Genetic Variants

Gene:BNC2
Variant:p.G5R

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.G5R
c.13G>A
Surrounding Variants
1 paper
NM_017637.6
p.T7insFs
c.20_21insC
1 paper
NM_017637.6
p.P27S
c.79C>T
1 paper
NM_017637.6
p.A28A
c.84A>T
1 paper
NM_017637.6
p.Y29*
c.87T>A
1 paper
NM_017637.6
p.P33P
c.99A>T
1 paper
NM_017637.6
p.G36del1
c.106_108delCCC
1 paper
NM_017637.6
p.C35_S40del0
c.105_119del15
1 paper
NM_017637.6
p.T39_Q41delins
c.116_122delinsC
1 paper
NM_017637.6
p.E43A
c.128A>C
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