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.Y436Y

c.1308C>T

Surrounding Variants

1 paper

NM_014643.4

p.G437R

c.1309G>C

1 paper

NM_014643.4

p.G437R

c.1309G>A

1 paper

NM_014643.4

p.A438T

c.1312G>A

1 paper

NM_014643.4

p.R424Q

c.1271G>A

1 paper

NM_014643.4

p.R466C

c.1396C>T

1 paper

NM_014643.4

p.R405Q

c.1214G>A

1 paper

NM_014643.4

p.A473V

c.1418C>T

1 paper

NM_014643.4

p.C398_P399insFs

c.1193_1196dup4

1 paper

NM_014643.4

p.P477L

c.1430C>T

2 papers

NM_014643.4

p.A488T

c.1462G>A

1 paper

NM_014643.4

p.R496C

c.1486C>T

1 paper

NM_014643.4

p.A373T

c.1117G>A