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.V238M

c.712G>A

Surrounding Variants

1 paper

NM_002900.3

p.E240K

c.718G>A

1 paper

NM_002900.3

p.A243T

c.727G>A

1 paper

NM_002900.3

p.A243V

c.728C>T

1 paper

NM_002900.3

p.V228L

c.682G>T

1 paper

NM_002900.3

p.D226N

c.676G>A

1 paper

NM_002900.3

p.Y221_R236del16

c.661_707del48

1 paper

NM_002900.3

p.R258W

c.772C>T

4 papers

NM_002900.3

p.A263S

c.787G>T

1 paper

NM_002900.3

p.T212S

c.635C>G

1 paper

NM_002900.3

p.W211*

c.633G>A

1 paper

NM_002900.3

p.W211*

c.632G>A

1 paper

NM_002900.3

p.R267Q

c.800G>A