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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRABP2

CRABP2

33 papers

RefSeq Summary

This gene encodes a member of the retinoic acid (RA, a form of vitamin A) binding protein family and lipocalin/cytosolic fatty-acid binding protein family. The protein is a cytosol-to-nuclear shuttlin...

Pfam Domains

Lipocalinaa 5–138UCSCLipocalin / cytosolic fatty-acid binding protein family

Gene Aliases

HGNC Name

cellular retinoic acid binding protein 2

HGNC Alias Symbol

CRABP-II

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 17 variants

2 papers

chr1:156700944 C>T

NM_001878.4

p.R60H

c.179G>A

Lipocalin

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, hom=0)225 overlapping SVs

1 paper

chr1:156705412 C>G

NM_001878.4

p.R12P

c.35G>C

Lipocalin

exact variant not in gnomAD226 overlapping SVs

1 paper

chr1:156705412 C>T

NM_001878.4

p.R12Q

c.35G>A

Lipocalin

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=1, hom=0)226 overlapping SVs

1 paper

chr1:156705387 G>C

NM_001878.4

p.L20L

c.60C>G

Lipocalin

exact variant not in gnomAD226 overlapping SVs

1 paper

chr1:156701047 T>A

NM_001878.4

p.N26Y

c.76A>T

Lipocalin

Exome: 0.0% (AC=71, hom=0)Genome: 0.0% (AC=3, hom=0)225 overlapping SVs

1 paper

chr1:156701025 G>T

NM_001878.4

p.A33D

c.98C>A

Lipocalin

exact variant not in gnomAD225 overlapping SVs

1 paper

chr1:156700951 T>C

NM_001878.4

p.T58A

c.172A>G

Lipocalin

exact variant not in gnomAD225 overlapping SVs

1 paper

chr1:156700945 G>A

NM_001878.4

p.R60C

c.178C>T

Lipocalin

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=1, hom=0)225 overlapping SVs

1 paper

chr1:156700905 T>G

NM_001878.4

p.E73A

c.218A>C

Lipocalin

exact variant not in gnomAD225 overlapping SVs

1 paper

chr1:156700862 T>C

NM_001878.4

p.K83_S84Splc

c.249+12A>G

Exome: 1.8% (AC=26194, hom=1457)Genome: 3.7% (AC=5599, hom=242)225 overlapping SVs

1 paper

chr1:156700646 A>G

NM_001878.4

p.W88R

c.262T>C

Lipocalin

exact variant not in gnomAD225 overlapping SVs

1 paper

chr1:156700646 A>T

NM_001878.4

p.W88R

c.262T>A

Lipocalin

exact variant not in gnomAD225 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."