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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRB3

CRB3

19 papers

RefSeq Summary

This gene encodes a member of the Crumbs family of proteins. This gene is widely expressed in epithelial tissues where the encoded protein isoforms play various roles such as the control of cytokinesi...

Gene Aliases

HGNC Name

crumbs cell polarity complex component 3

HGNC Alias Symbol

MGC17303

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr19:6466551 G>A

NM_139161.5

p.R81Q

c.242G>A

Exome: 0.0% (AC=35, hom=1)Genome: 0.0% (AC=13, hom=0)4 overlapping SVs

1 paper

chr19:6465574 ACT>A

NM_139161.5

p.T38delFs

c.113_114delCT

exact variant not in gnomAD4 overlapping SVs

1 paper

chr19:6466559 C>T

NM_139161.5

p.R84W

c.250C>T

Exome: 0.0% (AC=55, hom=0)Genome: 0.0% (AC=5, hom=0)4 overlapping SVs

1 paper

chr19:6466603 G>C

NM_139161.5

p.E98D

c.294G>C

exact variant not in gnomAD4 overlapping SVs

1 paper

chr19:6466603 G>T

NM_139161.5

p.E98D

c.294G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a4 overlapping SVs

1 paper

chr19:6466619 C>T

NM_139161.5

p.R104C

c.310C>T

Exome: 0.0% (AC=559, hom=0)Genome: 0.0% (AC=64, hom=0)4 overlapping SVs

1 paper

chr19:6466640 C>T

NM_139161.5

p.L111F

c.331C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a4 overlapping SVs

1 paper

chr19:6466650 C>T

NM_139161.5

p.P114L

c.341C>T

Exome: 0.0% (AC=34, hom=0)Genome: 0.0% (AC=5, hom=0)4 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."