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.P1088S

c.3262C>T

Surrounding Variants

1 paper

NM_002900.3

p.R1114Q

c.3341G>A

1 paper

NM_002900.3

p.S1118delFs

c.3353_3354delCT

1 paper

NM_002900.3

p.S1118fs

c.3352_3353fs

1 paper

NM_002900.3

p.S1118fs

c.3352_3353fs

2 papers

NM_002900.3

p.A1126T

c.3376G>A

1 paper

NM_002900.3

p.A1126A

c.3378C>A

1 paper

NM_002900.3

p.G1130Splc

c.3388+2T>C

1 paper

NM_002900.3

p.Y1133*

c.3399T>A

1 paper

NM_002900.3

p.Y1133*

c.3399T>G

1 paper

NM_002900.3

p.S1135C

c.3404C>G

5 papers

NM_002900.3

p.E1152*

c.3454G>T

3 papers

NM_002900.3

p.R1163W

c.3487C>T