Varaico: Literature-Extracted Genetic Variants

Gene:ZNF592
Variant:p.A576E

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.A576E
c.1727C>A
Surrounding Variants
1 paper
NM_014630.3
p.L567R
c.1700T>G
1 paper
NM_014630.3
p.P564L
c.1691C>T
1 paper
NM_014630.3
p.A595T
c.1783G>A
1 paper
NM_014630.3
p.S601N
c.1802G>A
1 paper
NM_014630.3
p.Q604R
c.1811A>G
1 paper
NM_014630.3
p.V541V
c.1623C>T
1 paper
NM_014630.3
p.V611I
c.1831G>A
1 paper
NM_014630.3
p.L540L
c.1618C>T
1 paper
NM_014630.3
p.S537S
c.1611G>A
1 paper
NM_014630.3
p.S514G
c.1540A>G
1 paper
NM_014630.3
p.V653insFs
c.1958_1959insC
1 paper
NM_014630.3
p.A658V
c.1973C>T
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