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

1 paper

NM_002900.3

p.A488T

c.1462G>A

Surrounding Variants

1 paper

NM_002900.3

p.L492I

c.1474C>A

2 papers

NM_002900.3

p.R479C

c.1435C>T

1 paper

NM_002900.3

p.D477G

c.1430A>G

1 paper

NM_002900.3

p.T471M

c.1412C>T

2 papers

NM_002900.3

p.H505L

c.1514A>T

1 paper

NM_002900.3

p.Q469fs

c.1405_1406fs

1 paper

NM_002900.3

p.Q469insFs

c.1405_1406ins7

1 paper

NM_002900.3

p.L468insFs

c.1403_1404ins23

1 paper

NM_002900.3

p.P467L

c.1400C>T

1 paper

NM_002900.3

p.P467S

c.1399C>T

1 paper

NM_002900.3

p.T509I

c.1526C>T

1 paper

NM_002900.3

p.W465*

c.1395G>A