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

5 papers

NM_002900.3

p.E1152*

c.3454G>T

Surrounding Variants

3 papers

NM_002900.3

p.R1163W

c.3487C>T

1 paper

NM_002900.3

p.R1163Q

c.3488G>A

1 paper

NM_002900.3

p.L1165P

c.3494T>C

1 paper

NM_002900.3

p.S1135C

c.3404C>G

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.G1173E

c.3518G>A

1 paper

NM_002900.3

p.Q1179E

c.3535C>G

1 paper

NM_002900.3

p.V1183M

c.3547G>A

1 paper

NM_002900.3

p.N1187S

c.3560A>G

1 paper

NM_002900.3

p.R1196P

c.3587G>C

1 paper

NM_002900.3

p.G1203D

c.3608G>A