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

1–12 of 85 variants

4 papers

NM_178167.5

p.R317*

c.949C>T

3 papers

NM_178167.5

p.R69C

c.205C>T

3 papers

NM_178167.5

p.D556ins1

c.1667_1668insGGA

2 papers

NM_178167.5

p.C29S

c.85T>A

2 papers

NM_178167.5

p.C29S

c.86G>C

2 papers

NM_178167.5

p.C32S

c.94T>A

2 papers

NM_178167.5

p.C32S

c.95G>C

2 papers

NM_178167.5

p.G42fs

c.124_125fs

2 papers

NM_178167.5

p.G42delFs

c.125delC

2 papers

NM_178167.5

p.R296Q

c.887G>A

2 papers

NM_178167.5

p.R478R

c.1434G>A

2 papers

NM_178167.5

p.M637T

c.1910T>C