Varaico: Literature-Extracted Genetic Variants

Gene:ZC4H2
Variant:p.E42A

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.E42A
c.125A>C
Surrounding Variants
1 paper
NM_018684.4
p.E42_R43delFs
c.126_127delTT
1 paper
NM_018684.4
p.S40T
c.118T>A
1 paper
NM_018684.4
p.K46T
c.137A>C
1 paper
NM_018684.4
p.Y48N
c.142T>A
1 paper
NM_018684.4
p.E36V
c.107A>T
1 paper
NM_018684.4
p.Y48C
c.143A>G
1 paper
NM_018684.4
p.Y48*
c.144C>G
1 paper
NM_018684.4
p.Y48*
c.144C>A
2 papers
NM_018684.4
p.K49*
c.145A>T
1 paper
NM_018684.4
p.K49N
c.147G>C
3 papers
NM_018684.4
p.Q50*
c.148C>T
1 paper
NM_018684.4
p.D53H
c.157G>C
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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."