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.K305R

c.914A>G

Surrounding Variants

1 paper

NM_014643.4

p.K305Q

c.913A>C

1 paper

NM_014643.4

p.F290F

c.870C>T

1 paper

NM_014643.4

p.S349I

c.1046G>T

1 paper

NM_014643.4

p.R358H

c.1073G>A

1 paper

NM_014643.4

p.G246R

c.736G>C

1 paper

NM_014643.4

p.G246R

c.736G>A

1 paper

NM_014643.4

p.G239R

c.715G>C

1 paper

NM_014643.4

p.G239S

c.715G>A

1 paper

NM_014643.4

p.A373T

c.1117G>A

1 paper

NM_014643.4

p.T225S

c.674C>G

1 paper

NM_014643.4

p.C398_P399insFs

c.1193_1196dup4

1 paper

NM_014643.4

p.R405Q

c.1214G>A