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

11 papers

NM_002900.3

p.D1080N

c.3238G>A

Surrounding Variants

1 paper

NM_002900.3

p.G1053S

c.3157G>A

1 paper

NM_002900.3

p.F1033F

c.3099C>T

1 paper

NM_002900.3

p.F1031delFs

c.3092delT

1 paper

NM_002900.3

p.E1023*

c.3067G>T

1 paper

NM_002900.3

p.S1021Y

c.3062C>A

1 paper

NM_002900.3

p.P1088S

c.3262C>T

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.M1017I

c.3051G>A

1 paper

NM_002900.3

p.M1017I

c.3051G>C

1 paper

NM_002900.3

p.M1017I

c.3051G>T

1 paper

NM_002900.3

p.S1118fs

c.3352_3353fs