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

4 papers

NM_002900.3

p.R388*

c.1162C>T

Surrounding Variants

1 paper

NM_002900.3

p.I390S

c.1169T>G

1 paper

NM_002900.3

p.P392H

c.1175C>A

1 paper

NM_002900.3

p.T393I

c.1178C>T

1 paper

NM_002900.3

p.T393T

c.1179A>G

1 paper

NM_002900.3

p.D402_A403insC

c.1204_1208ins3

1 paper

NM_002900.3

p.E406*

c.1216G>T

1 paper

NM_002900.3

p.P409S

c.1225C>T

3 papers

NM_002900.3

p.P413S

c.1237C>T

1 paper

NM_002900.3

p.T361M

c.1082C>T

1 paper

NM_002900.3

p.F359S

c.1076T>C

2 papers

NM_002900.3

p.E417Q

c.1249G>C

1 paper

NM_002900.3

p.E417A

c.1250A>C