Varaico: Literature-Extracted Genetic Variants

Gene:ZC4H2
Variant:p.L54V

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
1 paper
NM_018684.4
p.L54V
c.160C>G
Surrounding Variants
1 paper
NM_018684.4
p.D53H
c.157G>C
1 paper
NM_018684.4
p.L54delFs
c.162delA
1 paper
NM_018684.4
p.D53fs
c.157_158fs
1 paper
NM_018684.4
p.L55fs
c.163_164fs
1 paper
NM_018684.4
p.Q57P
c.170A>C
1 paper
NM_018684.4
p.E58*
c.172G>T
1 paper
NM_018684.4
p.D53_Q57delFs
c.158_171del14
3 papers
NM_018684.4
p.Q50*
c.148C>T
1 paper
NM_018684.4
p.K49N
c.147G>C
1 paper
NM_018684.4
p.K59fs
c.175_176fs
2 papers
NM_018684.4
p.K49*
c.145A>T
1 paper
NM_018684.4
p.Y48*
c.144C>G
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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."