Varaico: Literature-Extracted Genetic Variants

Gene:BNC2
Variant:p.E370D

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.E370D
c.1110A>C
Surrounding Variants
1 paper
NM_017637.6
p.E370K
c.1108G>A
1 paper
NM_017637.6
p.N378H
c.1132A>C
1 paper
NM_017637.6
p.R351M
c.1052G>T
1 paper
NM_017637.6
p.E346Q
c.1036G>C
1 paper
NM_017637.6
p.P339S
c.1015C>T
1 paper
NM_017637.6
p.L336L
c.1008A>T
1 paper
NM_017637.6
p.V331I
c.991G>A
2 papers
NM_017637.6
p.L414V
c.1240C>G
1 paper
NM_017637.6
p.R430K
c.1289G>A
2 papers
NM_017637.6
p.P306A
c.916C>G
1 paper
NM_017637.6
p.N305Y
c.913A>T
1 paper
NM_017637.6
p.V441G
c.1322T>G
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