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.L289delFs

c.865delC

Surrounding Variants

1 paper

NM_002900.3

p.P288fs

c.862_863fs

1 paper

NM_002900.3

p.G287_P288delFs

c.861_864del4

1 paper

NM_002900.3

p.G290R

c.868G>C

1 paper

NM_002900.3

p.G290fs

c.868_869fs

1 paper

NM_002900.3

p.S293_Q294insC

c.877_881ins3

1 paper

NM_002900.3

p.Q294L

c.881A>T

5 papers

NM_002900.3

p.F278del1

c.832_834delTTC

1 paper

NM_002900.3

p.V301G

c.902T>G

1 paper

NM_002900.3

p.L269P

c.806T>C

2 papers

NM_002900.3

p.K268*

c.802A>T

1 paper

NM_002900.3

p.T307I

c.920C>T

1 paper

NM_002900.3

p.R267Q

c.800G>A