Varaico: Literature-Extracted Genetic Variants

Gene:ZNF469
Variant:p.R538R

ZNF469

237 papers

RefSeq Summary

This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organi...

Pfam Domains

zf-C2H2aa 3338–3359UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 469

HGNC Alias Symbols

KIAA1858; Zfp469

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001367624.2
p.R538R
c.1612A>C
Surrounding Variants
1 paper
NM_001367624.2
p.S539C
c.1615A>T
3 papers
NM_001367624.2
p.V537M
c.1609G>A
1 paper
NM_001367624.2
p.G543S
c.1627G>A
3 papers
NM_001367624.2
p.G529fs
c.1585_1586fs
1 paper
NM_001367624.2
p.P528R
c.1583C>G
4 papers
NM_001367624.2
p.G529delFs
c.1586delG
1 paper
NM_001367624.2
p.G522V
c.1565G>T
3 papers
NM_001367624.2
p.D555N
c.1663G>A
1 paper
NM_001367624.2
p.Q514insFs
c.1541_1542insG
1 paper
NM_001367624.2
p.Q514delFs
c.1542delG
1 paper
NM_001367624.2
p.Q514fs
c.1540_1541fs
1 paper
NM_001367624.2
p.G564_A566del3
c.1690_1697del9
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