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.E978D

c.2934A>C

Surrounding Variants

1 paper

NM_002900.3

p.E978D

c.2934A>T

1 paper

NM_002900.3

p.R971R

c.2913C>T

1 paper

NM_002900.3

p.G967V

c.2900G>T

1 paper

NM_002900.3

p.L992F

c.2974C>T

1 paper

NM_002900.3

p.H997Q

c.2991C>A

1 paper

NM_002900.3

p.H997Q

c.2991C>G

1 paper

NM_002900.3

p.E956K

c.2866G>A

1 paper

NM_002900.3

p.A949V

c.2846C>T

1 paper

NM_002900.3

p.R1010C

c.3028C>T

1 paper

NM_002900.3

p.R1010H

c.3029G>A

1 paper

NM_002900.3

p.T943M

c.2828C>T

1 paper

NM_002900.3

p.Q942*

c.2824C>T