Varaico: Literature-Extracted Genetic Variants

ZNF516

71 papers

RefSeq Summary

Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc-finger protein, a...

Pfam Domains

zf-C2H2aa 34–56UCSCZinc finger, C2H2 type

zf-C2H2aa 62–84UCSCZinc finger, C2H2 type

zf-C2H2aa 248–270UCSCZinc finger, C2H2 type

zf-C2H2aa 278–298UCSCZinc finger, C2H2 type

zf-C2H2aa 1098–1120UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 516

HGNC Alias Symbols

HsT287; KIAA0222

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014643.4

p.Q133*

c.397C>T

Surrounding Variants

1 paper

NM_014643.4

p.N125Y

c.373A>T

1 paper

NM_014643.4

p.G142R

c.424G>C

1 paper

NM_014643.4

p.G142R

c.424G>A

1 paper

NM_014643.4

p.A146A

c.438C>G

1 paper

NM_014643.4

p.E109A

c.326A>C

1 paper

NM_014643.4

p.K158N

c.474G>T

1 paper

NM_014643.4

p.K158N

c.474G>C

1 paper

NM_014643.4

p.A100V

c.299C>T

1 paper

NM_014643.4

p.E99E

c.297G>A

1 paper

NM_014643.4

p.S83S

c.249C>T

1 paper

NM_014643.4

p.I79S

c.236T>G

1 paper

NM_014643.4

p.L191V

c.571C>G