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

Selected Variant

1 paper

NM_002899.5

p.I113V

c.337A>G

Surrounding Variants

1 paper

NM_002899.5

p.R115H

c.344G>A

1 paper

NM_002899.5

p.G109S

c.325G>A

1 paper

NM_002899.5

p.S118R

c.352A>C

1 paper

NM_002899.5

p.S118R

c.354C>G

1 paper

NM_002899.5

p.S118R

c.354C>A

1 paper

NM_002899.5

p.F127C

c.380T>G

1 paper

NM_002899.5

p.K131fs

c.391_392fs

1 paper

NM_002899.5

p.V129_E134delFs

c.387_400del14

1 paper

NM_002899.5

p.V90M

c.268G>A

1 paper

NM_002899.5

p.I140K

c.419T>A

1 paper

NM_002899.5

p.D142E

c.426C>G

1 paper

NM_002899.5

p.M146_T147Splc

c.438+3G>A