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

2 papers

NM_002900.3

p.N83K

c.249C>G

Surrounding Variants

2 papers

NM_002900.3

p.N83K

c.249C>A

1 paper

NM_002900.3

p.D84A

c.251A>C

1 paper

NM_002900.3

p.L74_Q79delFs

c.221_236del16

1 paper

NM_002900.3

p.P98insFs

c.293_294insC

1 paper

NM_002900.3

p.P100L

c.299C>T

1 paper

NM_002900.3

p.P103Q

c.308C>A

1 paper

NM_002900.3

p.T106_E111del6

c.316_332del18

1 paper

NM_002900.3

p.I61F

c.181A>T

1 paper

NM_002900.3

p.H59L

c.176A>T

1 paper

NM_002900.3

p.A55S

c.163G>T

1 paper

NM_002900.3

p.Q54*

c.160C>T

1 paper

NM_002900.3

p.Q53L

c.158A>T