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.S453Y

c.1358C>A

Surrounding Variants

1 paper

NM_178167.5

p.L448insFs

c.1343_1344insT

1 paper

NM_178167.5

p.L448fs

c.1342_1343fs

1 paper

NM_178167.5

p.D442N

c.1324G>A

2 papers

NM_178167.5

p.R478R

c.1434G>A

1 paper

NM_178167.5

p.S492L

c.1475C>T

1 paper

NM_178167.5

p.G431Splc

c.1292+46T>C

1 paper

NM_178167.5

p.N508H

c.1522A>C

1 paper

NM_178167.5

p.S522S

c.1566G>A

1 paper

NM_178167.5

p.P424L

c.1271C>T

1 paper

NM_178167.5

p.G546C

c.1636G>T

3 papers

NM_178167.5

p.D556ins1

c.1667_1668insGGA

1 paper

NM_178167.5

p.G557ins1

c.1670_1671insGGA