Varaico: Literature-Extracted Genetic Variants

ZNF597

17 papers

RefSeq Summary

This gene encodes a protein with multiple zinc finger domains. Loss of the related gene in rodents results in defects in neural development and embryonic lethality in mutant homozygotes. This gene is ...

Pfam Domains

KRABaa 13–54UCSCKRAB box

zf-C2H2aa 156–178UCSCZinc finger, C2H2 type

zf-C2H2aa 184–206UCSCZinc finger, C2H2 type

zf-C2H2aa 212–234UCSCZinc finger, C2H2 type

zf-C2H2aa 397–419UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 597

HGNC Alias Symbols

FLJ33071; HIT-4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 15 variants

1 paper

NM_152457.3

p.V21L

c.61G>T

1 paper

NM_152457.3

p.V21L

c.61G>C

1 paper

NM_152457.3

p.P33_A34insFs

c.99_100insCA

1 paper

NM_152457.3

p.A34fs

c.100_101fs

1 paper

NM_152457.3

p.G99_N100insCA

c.295_299ins6

1 paper

NM_152457.3

p.G151E

c.452G>A

1 paper

NM_152457.3

p.L171V

c.511C>G

1 paper

NM_152457.3

p.G208S

c.622G>A

1 paper

NM_152457.3

p.L283V

c.847C>G

1 paper

NM_152457.3

p.E288K

c.862G>A

1 paper

NM_152457.3

p.L313F

c.937C>T

1 paper

NM_152457.3

p.E315K

c.943G>A