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

1–12 of 94 variants

2 papers

NM_014643.4

p.A488T

c.1462G>A

2 papers

NM_014643.4

p.C610R

c.1828T>C

2 papers

NM_014643.4

p.P1037fs

c.3109_3110fs

2 papers

NM_014643.4

p.R1118G

c.3352C>G

1 paper

NM_014643.4

p.E8K

c.22G>A

1 paper

NM_014643.4

p.M9I

c.27G>T

1 paper

NM_014643.4

p.M9I

c.27G>C

1 paper

NM_014643.4

p.M9I

c.27G>A

1 paper

NM_014643.4

p.F43V

c.127T>G

1 paper

NM_014643.4

p.Q46K

c.136C>A

1 paper

NM_014643.4

p.S50L

c.149C>T

1 paper

NM_014643.4

p.R54C

c.160C>T