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.R489C

c.1465C>T

Surrounding Variants

1 paper

NM_144631.6

p.V493M

c.1477G>A

1 paper

NM_144631.6

p.G497S

c.1489G>A

1 paper

NM_144631.6

p.A506T

c.1516G>A

1 paper

NM_144631.6

p.R461fs

c.1381_1382fs

1 paper

NM_144631.6

p.R461delFs

c.1382delC

1 paper

NM_144631.6

p.M457T

c.1370T>C

1 paper

NM_144631.6

p.R523insFs

c.1567dupC

1 paper

NM_144631.6

p.R445W

c.1333C>T

1 paper

NM_144631.6

p.G426C

c.1276G>T

1 paper

NM_144631.6

p.K414R

c.1241A>G

1 paper

NM_144631.6

p.R408C

c.1222C>T

1 paper

NM_144631.6

p.A396G

c.1187C>G