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.G347delFs

c.1041delA

Surrounding Variants

1 paper

NM_144631.6

p.G347fs

c.1039_1040fs

1 paper

NM_144631.6

p.S349insFs

c.1046dupG

1 paper

NM_144631.6

p.P352L

c.1055C>T

1 paper

NM_144631.6

p.G346_G354del9

c.1036_1061del27

10 papers

NM_144631.6

p.C339R

c.1015T>C

1 paper

NM_144631.6

p.A368V

c.1103C>T

1 paper

NM_144631.6

p.T369A

c.1105A>G

1 paper

NM_144631.6

p.P372S

c.1114C>T

2 papers

NM_144631.6

p.R377Q

c.1130G>A

1 paper

NM_144631.6

p.H378R

c.1133A>G

1 paper

NM_144631.6

p.R317Q

c.950G>A

1 paper

NM_144631.6

p.K380R

c.1139A>G