Varaico: Literature-Extracted Genetic Variants

Gene:ZNF713
Variant:p.E17Q

ZNF713

15 papers

RefSeq Summary

The protein encoded by this gene contains C2H2 zinc finger domains. In some individuals, a CGG-repeat expansion from 5-22 repeats to 68-450 repeats has been identified in the first intron of this gene...

Pfam Domains

KRABaa 18–59UCSCKRAB box
zf-C2H2aa 273–295UCSCZinc finger, C2H2 type
zf-C2H2aa 301–323UCSCZinc finger, C2H2 type
zf-C2H2aa 329–351UCSCZinc finger, C2H2 type
zf-H2C2_2aa 371–396UCSCZinc-finger double domain

Gene Aliases

HGNC Name

zinc finger protein 713

HGNC Alias Symbol

FLJ39963

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_182633.3
p.E17Q
c.49G>C
Surrounding Variants
1 paper
NM_182633.3
p.Q10fs
c.28_29fs
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