Varaico: Literature-Extracted Genetic Variants

Gene:ZC4H2
Variant:p.H70Q

ZC4H2

236 papers

RefSeq Summary

This gene encodes a member of the zinc finger domain-containing protein family. This family member has a C-terminal zinc finger domain that is characterized by four cysteine residues and two histidine...

Pfam Domains

zf-C4H2aa 13–221UCSCZinc finger-containing protein

Gene Aliases

HGNC Name

zinc finger C4H2-type containing

HGNC Previous Symbols

KIAA1166; WWS; MCS; MRXS4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018684.4
p.H70Q
c.210C>A
Surrounding Variants
2 papers
NM_018684.4
p.H70Q
c.210C>G
1 paper
NM_018684.4
p.D72Y
c.214G>T
2 papers
NM_018684.4
p.D72A
c.215A>C
8 papers
NM_018684.4
p.R67*
c.199C>T
8 papers
NM_018684.4
p.L66H
c.197T>A
2 papers
NM_018684.4
p.L66F
c.196C>T
1 paper
NM_018684.4
p.V75_M76Splc
c.225+2T>C
1 paper
NM_018684.4
p.E65Q
c.193G>C
1 paper
NM_018684.4
p.E65K
c.193G>A
1 paper
NM_018684.4
p.E64A
c.191A>C
1 paper
NM_018684.4
p.V75_M76Splc
c.225+5G>T
6 papers
NM_018684.4
p.V75_M76Splc
c.225+5G>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."