Varaico: Literature-Extracted Genetic Variants

Gene:BNC2
Variant:p.S575R

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
3 papers
NM_017637.6
p.S575R
c.1723A>C
Surrounding Variants
3 papers
NM_017637.6
p.S575R
c.1725T>G
3 papers
NM_017637.6
p.S575R
c.1725T>A
1 paper
NM_017637.6
p.Y573N
c.1717T>A
2 papers
NM_017637.6
p.P579S
c.1735C>T
1 paper
NM_017637.6
p.P579L
c.1736C>T
1 paper
NM_017637.6
p.V583A
c.1748T>C
1 paper
NM_017637.6
p.V566I
c.1696G>A
1 paper
NM_017637.6
p.V559L
c.1675G>T
1 paper
NM_017637.6
p.V559L
c.1675G>C
1 paper
NM_017637.6
p.I601V
c.1801A>G
1 paper
NM_017637.6
p.H604N
c.1810C>A
1 paper
NM_017637.6
p.P606S
c.1816C>T
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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."