Varaico: Literature-Extracted Genetic Variants

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

1–12 of 15 variants

1 paper

NM_182633.3

p.Q10fs

c.28_29fs

1 paper

NM_182633.3

p.E17Q

c.49G>C

1 paper

NM_182633.3

p.Y57fs

c.169_170fs

1 paper

NM_182633.3

p.E85A

c.254A>C

1 paper

NM_182633.3

p.Q117L

c.350A>T

1 paper

NM_182633.3

p.Q166H

c.498A>T

1 paper

NM_182633.3

p.K204R

c.611A>G

1 paper

NM_182633.3

p.S209C

c.626C>G

1 paper

NM_182633.3

p.I216T

c.647T>C

1 paper

NM_182633.3

p.R324H

c.971G>A

1 paper

NM_182633.3

p.A350T

c.1048G>A

1 paper

NM_182633.3

p.T355S

c.1063A>T