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.I646I

c.1938C>T

Surrounding Variants

1 paper

NM_014643.4

p.S635L

c.1904C>T

1 paper

NM_014643.4

p.A634T

c.1900G>A

2 papers

NM_014643.4

p.C610R

c.1828T>C

1 paper

NM_014643.4

p.P607P

c.1821G>A

1 paper

NM_014643.4

p.T697M

c.2090C>T

1 paper

NM_014643.4

p.L713*

c.2138T>A

1 paper

NM_014643.4

p.P732L

c.2195C>T

1 paper

NM_014643.4

p.A737V

c.2210C>T

1 paper

NM_014643.4

p.D742H

c.2224G>C

1 paper

NM_014643.4

p.W776*

c.2327G>A

1 paper

NM_014643.4

p.W776*

c.2328G>A

1 paper

NM_014643.4

p.W782L

c.2345G>T