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

2 papers

NM_014643.4

p.R1118G

c.3352C>G

Surrounding Variants

1 paper

NM_014643.4

p.R1118fs

c.3352_3353fs

1 paper

NM_014643.4

p.A1119T

c.3355G>A

1 paper

NM_014643.4

p.D1127N

c.3379G>A

1 paper

NM_014643.4

p.R1130Q

c.3389G>A

1 paper

NM_014643.4

p.A1141T

c.3421G>A

1 paper

NM_014643.4

p.Q1144_G1145Splc

c.3432+1G>A

1 paper

NM_014643.4

p.P1046T

c.3136C>A

1 paper

NM_014643.4

p.Q1044insFs

c.3130_3131ins7

2 papers

NM_014643.4

p.P1037fs

c.3109_3110fs

1 paper

NM_014643.4

p.A1033S

c.3097G>T

1 paper

NM_014643.4

p.P995T

c.2983C>A

1 paper

NM_014643.4

p.G954A

c.2861G>C