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.R242H

c.725G>A

Surrounding Variants

1 paper

NM_144631.6

p.R242C

c.724C>T

1 paper

NM_144631.6

p.R247*

c.739C>T

1 paper

NM_144631.6

p.R247L

c.740G>T

1 paper

NM_144631.6

p.P248Q

c.743C>A

1 paper

NM_144631.6

p.A249T

c.745G>A

3 papers

NM_144631.6

p.R250W

c.748C>T

1 paper

NM_144631.6

p.R250Q

c.749G>A

1 paper

NM_144631.6

p.P232S

c.694C>T

1 paper

NM_144631.6

p.P231S

c.691C>T

2 papers

NM_144631.6

p.A229T

c.685G>A

1 paper

NM_144631.6

p.E256D

c.768G>T

1 paper

NM_144631.6

p.A260A

c.780G>A