Varaico: Literature-Extracted Genetic Variants

Gene:BNC2
Variant:p.K819R

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.K819R
c.2456A>G
Surrounding Variants
2 papers
NM_017637.6
p.M801R
c.2402T>G
1 paper
NM_017637.6
p.Y794D
c.2380T>G
2 papers
NM_017637.6
p.Y791H
c.2371T>C
1 paper
NM_017637.6
p.L850insFs
c.2548_2549ins5
1 paper
NM_017637.6
p.F778C
c.2333T>G
1 paper
NM_017637.6
p.V774fs
c.2320_2321fs
1 paper
NM_017637.6
p.V774delFs
c.2321delA
1 paper
NM_017637.6
p.V771F
c.2311G>T
1 paper
NM_017637.6
p.V771I
c.2311G>A
1 paper
NM_017637.6
p.P766S
c.2296C>T
1 paper
NM_017637.6
p.D760E
c.2280T>G
1 paper
NM_017637.6
p.D760E
c.2280T>A
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