Varaico: Literature-Extracted Genetic Variants

Gene:ZNF469
Variant:p.P1750T

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
2 papers
NM_001367624.2
p.P1750T
c.5248C>A
Surrounding Variants
1 paper
NM_001367624.2
p.A1756T
c.5266G>A
4 papers
NM_001367624.2
p.Q1785*
c.5353C>T
1 paper
NM_001367624.2
p.C1708Y
c.5123G>A
1 paper
NM_001367624.2
p.A1690_Q1698del9
c.5068_5093del27
1 paper
NM_001367624.2
p.S1681insFs
c.5041_5042insA
2 papers
NM_001367624.2
p.P1822T
c.5464C>A
1 paper
NM_001367624.2
p.G1824C
c.5470G>T
1 paper
NM_001367624.2
p.W1658R
c.4972T>A
1 paper
NM_001367624.2
p.W1658R
c.4972T>C
1 paper
NM_001367624.2
p.R1637Q
c.4910G>A
1 paper
NM_001367624.2
p.L1875_C1883del9
c.5623_5648del27
1 paper
NM_001367624.2
p.E1619K
c.4855G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."