Varaico: Literature-Extracted Genetic Variants

Gene:ZNF431
Variant:p.E543V

ZNF431

33 papers

RefSeq Summary

This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein may negatively regulate transcription of target genes, including the hedgehog signaling pathway...

Pfam Domains

KRABaa 34–75UCSCKRAB box
KRABaa 34–75UCSCKRAB box
zf-H2C2_2aa 246–271UCSCZinc-finger double domain
zf-H2C2_2aa 246–271UCSCZinc-finger double domain
zf-H2C2_2aa 246–271UCSCZinc-finger double domain
zf-C2H2aa 288–310UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 431

HGNC Alias Symbol

KIAA1969

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_133473.4
p.E543V
c.1628A>T
Surrounding Variants
1 paper
NM_133473.4
p.N541K
c.1623C>A
1 paper
NM_133473.4
p.N541K
c.1623C>G
1 paper
NM_133473.4
p.N547S
c.1640A>G
1 paper
NM_133473.4
p.E565D
c.1695A>C
1 paper
NM_133473.4
p.Y512*
c.1536C>A
1 paper
NM_133473.4
p.Y512*
c.1536C>G
1 paper
NM_133473.4
p.T507T
c.1521A>T
1 paper
NM_133473.4
p.R476G
c.1426A>G
1 paper
NM_133473.4
p.K475E
c.1423A>G
1 paper
NM_133473.4
p.G452V
c.1355G>T
1 paper
NM_133473.4
p.A445T
c.1333G>A
1 paper
NM_133473.4
p.P441S
c.1321C>T
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