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.T547K

c.1640C>A

Surrounding Variants

1 paper

NM_002900.3

p.A548V

c.1643C>T

1 paper

NM_002900.3

p.T545A

c.1633A>G

2 papers

NM_002900.3

p.R544H

c.1631G>A

1 paper

NM_002900.3

p.E551A

c.1652A>C

2 papers

NM_002900.3

p.L540P

c.1619T>C

1 paper

NM_002900.3

p.L540F

c.1618C>T

1 paper

NM_002900.3

p.V537M

c.1609G>A

1 paper

NM_002900.3

p.W561_A562insFs

c.1682_1686dup5

1 paper

NM_002900.3

p.T563fs

c.1687_1688fs

2 papers

NM_002900.3

p.R530H

c.1589G>A

1 paper

NM_002900.3

p.R530C

c.1588C>T

1 paper

NM_002900.3

p.P529L

c.1586C>T