Varaico: Literature-Extracted Genetic Variants

Gene:ZNF469
Variant:p.A1251V

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.A1251V
c.3752C>T
Surrounding Variants
3 papers
NM_001367624.2
p.A1250V
c.3749C>T
1 paper
NM_001367624.2
p.A1258E
c.3773C>A
2 papers
NM_001367624.2
p.T1230N
c.3689C>A
1 paper
NM_001367624.2
p.P1202R
c.3605C>G
1 paper
NM_001367624.2
p.D1201Y
c.3601G>T
1 paper
NM_001367624.2
p.A1310T
c.3928G>A
1 paper
NM_001367624.2
p.K1190E
c.3568A>G
1 paper
NM_001367624.2
p.P1189T
c.3565C>A
1 paper
NM_001367624.2
p.K1317R
c.3950A>G
1 paper
NM_001367624.2
p.R1176P
c.3527G>C
1 paper
NM_001367624.2
p.A1171G
c.3512C>G
1 paper
NM_001367624.2
p.S1161_R1162insFs
c.3483_3484insG
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