Varaico: Literature-Extracted Genetic Variants

Gene:BNC2
Variant:p.E240G

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.E240G
c.719A>G
Surrounding Variants
1 paper
NM_017637.6
p.E239V
c.716A>T
1 paper
NM_017637.6
p.M236I
c.708G>T
1 paper
NM_017637.6
p.M236I
c.708G>C
1 paper
NM_017637.6
p.M236I
c.708G>A
1 paper
NM_017637.6
p.V229L
c.685G>T
1 paper
NM_017637.6
p.V229L
c.685G>C
1 paper
NM_017637.6
p.Q269*
c.805C>T
2 papers
NM_017637.6
p.R283G
c.847A>G
2 papers
NM_017637.6
p.R291H
c.872G>A
1 paper
NM_017637.6
p.N305Y
c.913A>T
2 papers
NM_017637.6
p.P306A
c.916C>G
1 paper
NM_017637.6
p.V331I
c.991G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."