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.H808Q

c.2424C>G

Surrounding Variants

1 paper

NM_002900.3

p.R806C

c.2416C>T

1 paper

NM_002900.3

p.W824_L826del0

c.2470_2478del9

1 paper

NM_002900.3

p.T791M

c.2372C>T

1 paper

NM_002900.3

p.L826V

c.2476T>G

1 paper

NM_002900.3

p.Q832_Y834del3

c.2494_2501del9

1 paper

NM_002900.3

p.Q832K

c.2494C>A

2 papers

NM_002900.3

p.R833C

c.2497C>T

1 paper

NM_002900.3

p.D781H

c.2341G>C

1 paper

NM_002900.3

p.K838R

c.2513A>G

1 paper

NM_002900.3

p.A777A

c.2331G>A

1 paper

NM_002900.3

p.A777V

c.2330C>T

1 paper

NM_002900.3

p.A776T

c.2326G>A