Varaico: Literature-Extracted Genetic Variants

RBP1

55 papers

RefSeq Summary

This gene encodes the carrier protein involved in the transport of retinol (vitamin A alcohol) from the liver storage site to peripheral tissue. Vitamin A is a fat-soluble vitamin necessary for growth...

Pfam Domains

Lipocalinaa 6–134UCSCLipocalin / cytosolic fatty-acid binding protein family

Lipocalinaa 68–196UCSCLipocalin / cytosolic fatty-acid binding protein family

Gene Aliases

HGNC Name

retinol binding protein 1

HGNC Alias Symbols

CRABP-I; CRBP1; CRBP; RBPC; CRBPI; CRBP-I; hCRBP1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 30 variants

2 papers

NM_002899.5

p.P18L

c.53C>T

1 paper

NM_002899.5

p.P4insFs

c.10_11insC

1 paper

NM_002899.5

p.P13S

c.37C>T

1 paper

NM_002899.5

p.S23A

c.67T>G

1 paper

NM_002899.5

p.A31T

c.91G>A

1 paper

NM_002899.5

p.R36H

c.107G>A

1 paper

NM_002899.5

p.R36R

c.108T>C

1 paper

NM_002899.5

p.P48A

c.142C>G

1 paper

NM_002899.5

p.Y70H

c.208T>C

1 paper

NM_002899.5

p.F79S

c.236T>C

1 paper

NM_002899.5

p.V90M

c.268G>A

1 paper

NM_002899.5

p.G109S

c.325G>A