Varaico: Literature-Extracted Genetic Variants

Gene:BNC2

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
1–12 of 180 variants
3 papers
NM_017637.6
p.S575R
c.1723A>C
3 papers
NM_017637.6
p.S575R
c.1725T>G
3 papers
NM_017637.6
p.S575R
c.1725T>A
3 papers
NM_017637.6
p.P623H
c.1868C>A
2 papers
NM_017637.6
p.G5R
c.13G>A
2 papers
NM_017637.6
p.E55D
c.165G>T
2 papers
NM_017637.6
p.E55D
c.165G>C
2 papers
NM_017637.6
p.Q152R
c.455A>G
2 papers
NM_017637.6
p.E240G
c.719A>G
2 papers
NM_017637.6
p.R283G
c.847A>G
2 papers
NM_017637.6
p.R291H
c.872G>A
2 papers
NM_017637.6
p.P306A
c.916C>G
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."