Varaico: Literature-Extracted Genetic Variants

Gene:ZNF592
Variant:p.S816G

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
Selected Variant
1 paper
NM_014630.3
p.S816G
c.2446A>G
Surrounding Variants
1 paper
NM_014630.3
p.G805A
c.2414G>C
1 paper
NM_014630.3
p.H803Y
c.2407C>T
1 paper
NM_014630.3
p.Q853H
c.2559G>C
1 paper
NM_014630.3
p.Q853H
c.2559G>T
1 paper
NM_014630.3
p.E867D
c.2601A>C
1 paper
NM_014630.3
p.E867D
c.2601A>T
1 paper
NM_014630.3
p.E906*
c.2716G>T
4 papers
NM_014630.3
p.S926N
c.2777G>A
1 paper
NM_014630.3
p.R1008Q
c.3023G>A
1 paper
NM_014630.3
p.R1012Q
c.3035G>A
1 paper
NM_014630.3
p.R1029L
c.3086G>T
1 paper
NM_014630.3
p.F1042Y
c.3125T>A
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