Varaico: Literature-Extracted Genetic Variants

Gene:ZC4H2
Variant:p.K217R

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.K217R
c.650A>G
Surrounding Variants
1 paper
NM_018684.4
p.P215L
c.644C>T
1 paper
NM_018684.4
p.N214K
c.642C>G
13 papers
NM_018684.4
p.R213W
c.637C>T
2 papers
NM_018684.4
p.S212F
c.635C>T
4 papers
NM_018684.4
p.R211W
c.631C>T
7 papers
NM_018684.4
p.K209N
c.627G>T
7 papers
NM_018684.4
p.K209N
c.627G>C
1 paper
NM_018684.4
p.K209M
c.626A>T
1 paper
NM_018684.4
p.C206*
c.618C>A
3 papers
NM_018684.4
p.C206F
c.617G>T
3 papers
NM_018684.4
p.C203S
c.608G>C
3 papers
NM_018684.4
p.C203S
c.607T>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."