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

1–12 of 97 variants

10 papers

NM_144631.6

p.C339R

c.1015T>C

3 papers

NM_144631.6

p.C183C

c.549C>T

3 papers

NM_144631.6

p.R250W

c.748C>T

2 papers

NM_144631.6

p.M63L

c.187A>T

2 papers

NM_144631.6

p.M63L

c.187A>C

2 papers

NM_144631.6

p.Y185Y

c.555C>T

2 papers

NM_144631.6

p.C208fs

c.622_623fs

2 papers

NM_144631.6

p.A229T

c.685G>A

2 papers

NM_144631.6

p.R377Q

c.1130G>A

1 paper

NM_144631.6

p.M1L

c.1A>T

1 paper

NM_144631.6

p.M1L

c.1A>C

1 paper

NM_144631.6

p.M1T

c.2T>C