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

2 papers

NM_144631.6

p.M63L

c.187A>C

Surrounding Variants

2 papers

NM_144631.6

p.M63L

c.187A>T

1 paper

NM_144631.6

p.Q61R

c.182A>G

1 paper

NM_144631.6

p.E66*

c.196G>T

1 paper

NM_144631.6

p.D68insFs

c.203dupA

1 paper

NM_144631.6

p.E51_E53ins1

c.153_158dup6

1 paper

NM_144631.6

p.E49K

c.145G>A

1 paper

NM_144631.6

p.L44V

c.130C>G

1 paper

NM_144631.6

p.D43N

c.127G>A

1 paper

NM_144631.6

p.E35K

c.103G>A

1 paper

NM_144631.6

p.V33A

c.98T>C

1 paper

NM_144631.6

p.D26E

c.78C>A

1 paper

NM_144631.6

p.L25F

c.73C>T