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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RBP2

RBP2

35 papers

RefSeq Summary

This gene encodes an abundant protein present in the small intestinal epithelium. It is thought to participate in the uptake and/or intracellular metabolism of vitamin A. Vitamin A is a fat-soluble vi...

Pfam Domains

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

Gene Aliases

HGNC Name

retinol binding protein 2

HGNC Alias Symbols

CRBP2; RBPC2; CRBPII; CRABP-II

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 24 variants

3 papers

chr3:139462140 G>A

NM_004164.3

p.T75I

c.224C>T

Lipocalin

exact variant not in gnomAD72 overlapping SVs

2 papers

chr3:139462287 A>G

NM_004164.3

p.I26T

c.77T>C

Lipocalin

Exome: 0.0% (AC=48, hom=0)Genome: 0.0% (AC=50, hom=0)72 overlapping SVs

1 paper

chr3:139476399 T>C

NM_004164.3

p.M21V

c.61A>G

Lipocalin

Exome: 0.0% (AC=264, hom=0)Genome: 0.0% (AC=9, hom=0)72 overlapping SVs

1 paper

chr3:139476393 C>A

NM_004164.3

p.A23S

c.67G>T

Lipocalin

exact variant not in gnomAD72 overlapping SVs

1 paper

chr3:139462288 T>C

NM_004164.3

p.I26V

c.76A>G

Lipocalin

Exome: 0.0% (AC=9, hom=0)Genome: n/a72 overlapping SVs

1 paper

chr3:139462278 G>A

NM_004164.3

p.A29V

c.86C>T

Lipocalin

exact variant not in gnomAD72 overlapping SVs

1 paper

chr3:139462272 C>T

NM_004164.3

p.R31H

c.92G>A

Lipocalin

Exome: 0.0% (AC=94, hom=0)Genome: 0.0% (AC=4, hom=0)72 overlapping SVs

1 paper

chr3:139462266 A>C

NM_004164.3

p.I33S

c.98T>G

Lipocalin

exact variant not in gnomAD72 overlapping SVs

1 paper

chr3:139462244 C>T

NM_004164.3

p.T40T

c.120G>A

Lipocalin

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=3, hom=0)72 overlapping SVs

1 paper

chr3:139462240 C>T

NM_004164.3

p.V42I

c.124G>A

Lipocalin

exact variant not in gnomAD72 overlapping SVs

1 paper

chr3:139462225 C>T

NM_004164.3

p.G47S

c.139G>A

Lipocalin

exact variant not in gnomAD72 overlapping SVs

1 paper

chr3:139462216 A>C

NM_004164.3

p.F50V

c.148T>G

Lipocalin

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)72 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."