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.S73F

c.218C>T

Surrounding Variants

1 paper

NM_144631.6

p.R77R

c.231G>A

1 paper

NM_144631.6

p.P81R

c.242C>G

1 paper

NM_144631.6

p.L84V

c.250C>G

1 paper

NM_144631.6

p.E98K

c.292G>A

1 paper

NM_144631.6

p.E100V

c.299A>T

1 paper

NM_144631.6

p.R106_A111del6

c.316_332del18

1 paper

NM_144631.6

p.P116_P118del0

c.346_354del9

1 paper

NM_144631.6

p.P118_A119insFs

c.354_355ins37

1 paper

NM_144631.6

p.Q121insFs

c.361_362ins26

1 paper

NM_144631.6

p.Q121fs

c.361_362fs

1 paper

NM_144631.6

p.C123*

c.369T>A

1 paper

NM_144631.6

p.G141insFs

c.423dupG