Varaico: Literature-Extracted Genetic Variants

Gene:BNC2
Variant:p.F442L

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.F442L
c.1326C>G
Surrounding Variants
1 paper
NM_017637.6
p.F442L
c.1326C>A
1 paper
NM_017637.6
p.F442L
c.1324T>C
1 paper
NM_017637.6
p.V441G
c.1322T>G
1 paper
NM_017637.6
p.A445V
c.1334C>T
1 paper
NM_017637.6
p.R430K
c.1289G>A
1 paper
NM_017637.6
p.L456F
c.1366C>T
1 paper
NM_017637.6
p.R470*
c.1408C>T
2 papers
NM_017637.6
p.L414V
c.1240C>G
1 paper
NM_017637.6
p.S481C
c.1441A>T
1 paper
NM_017637.6
p.R496C
c.1486C>T
1 paper
NM_017637.6
p.M499L
c.1495A>T
1 paper
NM_017637.6
p.N378H
c.1132A>C
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