Varaico: Literature-Extracted Genetic Variants

Gene:ZNF469
Variant:p.C3339Y

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
9 papers
NM_001367624.2
p.C3339Y
c.10016G>A
Surrounding Variants
1 paper
NM_001367624.2
p.Q3353H
c.10059G>C
1 paper
NM_001367624.2
p.Q3353H
c.10059G>T
3 papers
NM_001367624.2
p.C3367Y
c.10100G>A
1 paper
NM_001367624.2
p.P3368H
c.10103C>A
1 paper
NM_001367624.2
p.R3369Q
c.10106G>A
5 papers
NM_001367624.2
p.R3369P
c.10106G>C
1 paper
NM_001367624.2
p.T3307A
c.9919A>G
2 papers
NM_001367624.2
p.R3306fs
c.9916_9917fs
3 papers
NM_001367624.2
p.P3305insFs
c.9915dupC
1 paper
NM_001367624.2
p.A3299V
c.9896C>T
4 papers
NM_001367624.2
p.A3293fs
c.9877_9878fs
4 papers
NM_001367624.2
p.S3292insFs
c.9876dupT
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