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.R134_V135insFs

c.402_403insC

Surrounding Variants

3 papers

NM_002900.3

p.G140S

c.418G>A

1 paper

NM_002900.3

p.Q141*

c.421C>T

1 paper

NM_002900.3

p.E142K

c.424G>A

1 paper

NM_002900.3

p.E149V

c.446A>T

1 paper

NM_002900.3

p.F150F

c.450C>T

1 paper

NM_002900.3

p.W116fs

c.346_347fs

1 paper

NM_002900.3

p.A115_L117delFs

c.345_349del5

1 paper

NM_002900.3

p.W156insFs

c.467_468insT

1 paper

NM_002900.3

p.S163P

c.487T>C

1 paper

NM_002900.3

p.T106_E111del6

c.316_332del18

4 papers

NM_002900.3

p.A164T

c.490G>A

1 paper

NM_002900.3

p.P103Q

c.308C>A