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.H697_L699del3

c.2089_2096del9

Surrounding Variants

3 papers

NM_002900.3

p.R698S

c.2092C>A

1 paper

NM_002900.3

p.L699L

c.2095T>C

1 paper

NM_002900.3

p.V693M

c.2077G>A

2 papers

NM_002900.3

p.E692*

c.2074G>T

1 paper

NM_002900.3

p.E707K

c.2119G>A

1 paper

NM_002900.3

p.P716Q

c.2147C>A

1 paper

NM_002900.3

p.P718delFs

c.2153delC

1 paper

NM_002900.3

p.P718P

c.2154T>A

1 paper

NM_002900.3

p.S722T

c.2164T>A

1 paper

NM_002900.3

p.P723L

c.2168C>T

1 paper

NM_002900.3

p.E725G

c.2174A>G

1 paper

NM_002900.3

p.Y728delFs

c.2184delC