Varaico: Literature-Extracted Genetic Variants

ZNF513

98 papers

RefSeq Summary

The protein encoded by this gene is a possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcrip...

Pfam Domains

zf-C2H2aa 178–200UCSCZinc finger, C2H2 type

zf-C2H2aa 206–228UCSCZinc finger, C2H2 type

zf-C2H2aa 388–410UCSCZinc finger, C2H2 type

zf-C2H2aa 416–438UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 513

HGNC Alias Symbols

FLJ32203; RP58; Zfp513

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_144631.6

p.R207C

c.619C>T

Surrounding Variants

1 paper

NM_144631.6

p.C208insFs

c.622_623insC

2 papers

NM_144631.6

p.C208fs

c.622_623fs

1 paper

NM_144631.6

p.P212fs

c.634_635fs

1 paper

NM_144631.6

p.P212delFs

c.635delG

1 paper

NM_144631.6

p.T199T

c.597C>A

1 paper

NM_144631.6

p.R195*

c.583C>T

1 paper

NM_144631.6

p.R223W

c.667C>T

2 papers

NM_144631.6

p.Y185Y

c.555C>T

2 papers

NM_144631.6

p.A229T

c.685G>A

3 papers

NM_144631.6

p.C183C

c.549C>T

1 paper

NM_144631.6

p.P231S

c.691C>T

1 paper

NM_144631.6

p.P232S

c.694C>T