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

1–12 of 254 variants

11 papers

NM_002900.3

p.D1080N

c.3238G>A

6 papers

NM_002900.3

p.V884M

c.2650G>A

5 papers

NM_002900.3

p.F278del1

c.832_834delTTC

5 papers

NM_002900.3

p.Y510*

c.1530T>A

5 papers

NM_002900.3

p.E1152*

c.3454G>T

4 papers

NM_002900.3

p.A164T

c.490G>A

4 papers

NM_002900.3

p.A263S

c.787G>T

4 papers

NM_002900.3

p.R388*

c.1162C>T

4 papers

NM_002900.3

p.Y510*

c.1530T>G

4 papers

NM_002900.3

p.T1212I

c.3635C>T

3 papers

NM_002900.3

p.K33E

c.97A>G

3 papers

NM_002900.3

p.G140S

c.418G>A