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.R257C

c.769C>T

Surrounding Variants

1 paper

NM_178167.5

p.R257delFs

c.769delG

1 paper

NM_178167.5

p.R257fs

c.769_770fs

1 paper

NM_178167.5

p.H254H

c.762C>T

1 paper

NM_178167.5

p.T253P

c.757A>C

1 paper

NM_178167.5

p.T249T

c.747G>A

1 paper

NM_178167.5

p.C269Y

c.806G>A

1 paper

NM_178167.5

p.R278C

c.832C>T

1 paper

NM_178167.5

p.Y228C

c.683A>G

1 paper

NM_178167.5

p.S288C

c.862A>T

1 paper

NM_178167.5

p.R296W

c.886C>T

2 papers

NM_178167.5

p.R296Q

c.887G>A

1 paper

NM_178167.5

p.Y224C

c.671A>G