Varaico: Literature-Extracted Genetic Variants

RBP3

209 papers

RefSeq Summary

Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and...

Pfam Domains

Peptidase_S41_Naa 19–127UCSCN-terminal domain of Peptidase_S41 in eukaryotic IRBP

Peptidase_S41aa 129–305UCSCPeptidase family S41

Peptidase_S41_Naa 309–436UCSCN-terminal domain of Peptidase_S41 in eukaryotic IRBP

Peptidase_S41aa 438–617UCSCPeptidase family S41

Peptidase_S41_Naa 619–740UCSCN-terminal domain of Peptidase_S41 in eukaryotic IRBP

Peptidase_S41aa 742–918UCSCPeptidase family S41

Gene Aliases

HGNC Name

retinol binding protein 3

HGNC Alias Symbols

D10S64; D10S65; D10S66; RP66; IRBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_002900.3

p.Y510*

c.1530T>G

Surrounding Variants

5 papers

NM_002900.3

p.Y510*

c.1530T>A

1 paper

NM_002900.3

p.T509I

c.1526C>T

1 paper

NM_002900.3

p.N515N

c.1545C>T

2 papers

NM_002900.3

p.H505L

c.1514A>T

1 paper

NM_002900.3

p.H523insFs

c.1567dupC

1 paper

NM_002900.3

p.H523Q

c.1569C>A

1 paper

NM_002900.3

p.H523Q

c.1569C>G

1 paper

NM_002900.3

p.P529T

c.1585C>A

1 paper

NM_002900.3

p.L492I

c.1474C>A

1 paper

NM_002900.3

p.P529L

c.1586C>T

1 paper

NM_002900.3

p.R530C

c.1588C>T

2 papers

NM_002900.3

p.R530H

c.1589G>A