Varaico: Literature-Extracted Genetic Variants

ZNF598

88 papers

RefSeq Summary

Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This protein and Grb10-interacting GYF pro...

Pfam Domains

RING_ZNF598aa 24–113UCSCZNF598 RING finger domain

zf-C2H2_13aa 212–266UCSCC2H2-type zinc finger

PAH_ZNF598aa 754–833UCSCZNF598 PAH domain

zf_C2H2_ZNF598aa 860–894UCSCZNF598 C2H2 zinc finger domain

Gene Aliases

HGNC Name

zinc finger protein 598, E3 ubiquitin ligase

HGNC Alias Symbols

FLJ00086; HEL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_178167.5

p.Q357H

c.1071G>T

Surrounding Variants

1 paper

NM_178167.5

p.Q357H

c.1071G>C

1 paper

NM_178167.5

p.E360K

c.1078G>A

1 paper

NM_178167.5

p.S352A

c.1054T>G

1 paper

NM_178167.5

p.R381Q

c.1142G>A

1 paper

NM_178167.5

p.R387G

c.1159C>G

1 paper

NM_178167.5

p.R394R

c.1182G>T

1 paper

NM_178167.5

p.R331Q

c.992G>A

4 papers

NM_178167.5

p.R317*

c.949C>T

1 paper

NM_178167.5

p.R314H

c.941G>A

1 paper

NM_178167.5

p.V300F

c.898G>T

1 paper

NM_178167.5

p.P424L

c.1271C>T

1 paper

NM_178167.5

p.G431Splc

c.1292+46T>C