Varaico: Literature-Extracted Genetic Variants

Gene:ZNF592

ZNF592

69 papers

RefSeq Summary

This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in cerebellar development. Mutations in this gene have been associated with autosomal recess...

Pfam Domains

zf-C2H2_ZNF592aa 609–653UCSCZNF592-like C2H2 zinc finger
zf-C2H2_11aa 1149–1177UCSCzinc-finger C2H2-type

Gene Aliases

HGNC Name

zinc finger protein 592

HGNC Previous Symbol

SCAR5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 76 variants
4 papers
NM_014630.3
p.S926N
c.2777G>A
2 papers
NM_014630.3
p.G1046R
c.3136G>A
2 papers
NM_014630.3
p.G1046R
c.3136G>C
1 paper
NM_014630.3
p.D20N
c.58G>A
1 paper
NM_014630.3
p.I30delFs
c.88delA
1 paper
NM_014630.3
p.I30fs
c.88_89fs
1 paper
NM_014630.3
p.E35K
c.103G>A
1 paper
NM_014630.3
p.M48I
c.144G>A
1 paper
NM_014630.3
p.M48I
c.144G>C
1 paper
NM_014630.3
p.M48I
c.144G>T
1 paper
NM_014630.3
p.G58A
c.173G>C
1 paper
NM_014630.3
p.D103G
c.308A>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."