Varaico: Literature-Extracted Genetic Variants

Gene:ZNF469
Variant:p.Q2163Q

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.Q2163Q
c.6489G>A
Surrounding Variants
5 papers
NM_001367624.2
p.Q2149fs
c.6445_6446fs
1 paper
NM_001367624.2
p.V2181I
c.6541G>A
4 papers
NM_001367624.2
p.G2148insFs
c.6444dupG
6 papers
NM_001367624.2
p.G2148delFs
c.6444delG
1 paper
NM_001367624.2
p.G2188delFs
c.6563delG
1 paper
NM_001367624.2
p.G2188G
c.6564G>C
1 paper
NM_001367624.2
p.P2196insFs
c.6586dupC
1 paper
NM_001367624.2
p.L2130V
c.6388C>G
1 paper
NM_001367624.2
p.S2198fs
c.6592_6593fs
1 paper
NM_001367624.2
p.A2120insFs
c.6360dupC
1 paper
NM_001367624.2
p.A2120delFs
c.6360delC
4 papers
NM_001367624.2
p.Q2216delFs
c.6647delA
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