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.M1L

c.1A>C

Surrounding Variants

1 paper

NM_144631.6

p.M1L

c.1A>T

1 paper

NM_144631.6

p.M1T

c.2T>C

1 paper

NM_144631.6

p.M1_P2insFs

c.3_4insT

1 paper

NM_144631.6

p.R3Q

c.8G>A

1 paper

NM_144631.6

p.H8Q

c.24C>A

1 paper

NM_144631.6

p.P11P

c.33C>T

1 paper

NM_144631.6

p.G16G

c.48G>C

1 paper

NM_144631.6

p.V17V

c.51C>T

1 paper

NM_144631.6

p.L25F

c.73C>T

1 paper

NM_144631.6

p.D26E

c.78C>A

1 paper

NM_144631.6

p.V33A

c.98T>C

1 paper

NM_144631.6

p.E35K

c.103G>A