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.L35P

c.104T>C

Surrounding Variants

1 paper

NM_002900.3

p.L35V

c.103C>G

3 papers

NM_002900.3

p.K33E

c.97A>G

1 paper

NM_002900.3

p.N38_P42delFs

c.112_124del13

1 paper

NM_002900.3

p.C40C

c.120C>T

1 paper

NM_002900.3

p.P42L

c.125C>T

1 paper

NM_002900.3

p.E43K

c.127G>A

1 paper

NM_002900.3

p.L27P

c.80T>C

1 paper

NM_002900.3

p.S26R

c.78C>G

1 paper

NM_002900.3

p.P25S

c.73C>T

1 paper

NM_002900.3

p.Q24P

c.71A>C

2 papers

NM_002900.3

p.L22P

c.65T>C

1 paper

NM_002900.3

p.E50delFs

c.150delA