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

2 papers

NM_002900.3

p.M920I

c.2760G>C

Surrounding Variants

2 papers

NM_002900.3

p.M920I

c.2760G>A

2 papers

NM_002900.3

p.M920I

c.2760G>T

1 paper

NM_002900.3

p.E922G

c.2765A>G

1 paper

NM_002900.3

p.P914P

c.2742C>T

2 papers

NM_002900.3

p.I930T

c.2789T>C

1 paper

NM_002900.3

p.A932A

c.2796T>A

1 paper

NM_002900.3

p.T939M

c.2816C>T

1 paper

NM_002900.3

p.T939T

c.2817G>T

1 paper

NM_002900.3

p.Q942*

c.2824C>T

1 paper

NM_002900.3

p.T943M

c.2828C>T

2 papers

NM_002900.3

p.M893I

c.2679G>A

2 papers

NM_002900.3

p.M893I

c.2679G>C