Varaico: Literature-Extracted Genetic Variants

Gene:ZNF592
Variant:p.E219K

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.E219K
c.655G>A
Surrounding Variants
1 paper
NM_014630.3
p.C201Y
c.602G>A
1 paper
NM_014630.3
p.K256R
c.767A>G
1 paper
NM_014630.3
p.R260Q
c.779G>A
1 paper
NM_014630.3
p.C265R
c.793T>C
1 paper
NM_014630.3
p.P270T
c.808C>A
1 paper
NM_014630.3
p.P162L
c.485C>T
1 paper
NM_014630.3
p.Q292*
c.874C>T
1 paper
NM_014630.3
p.E302K
c.904G>A
1 paper
NM_014630.3
p.D103G
c.308A>G
1 paper
NM_014630.3
p.S346S
c.1038G>A
1 paper
NM_014630.3
p.R350H
c.1049G>A
1 paper
NM_014630.3
p.S361L
c.1082C>T
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