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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VANGL1

VANGL1

127 papers

RefSeq Summary

This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene...

Pfam Domains

Strabismusaa 25–524UCSCStrabismus protein

Gene Aliases

HGNC Name

VANGL planar cell polarity protein 1

HGNC Alias Symbol

STB2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 141 variants

23 papers

chr1:115664171 G>A

NM_138959.3

p.V239I

c.715G>A

Strabismus

Exome: 0.0% (AC=61, hom=0)Genome: 0.0% (AC=9, hom=0)240 overlapping SVs

20 papers

chr1:115682372 G>A

NM_138959.3

p.R274Q

c.821G>A

Strabismus

Exome: 0.0% (AC=46, hom=0)Genome: 0.0% (AC=6, hom=0)240 overlapping SVs

18 papers

chr1:115683980 T>C

NM_138959.3

p.M328T

c.983T>C

Strabismus

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=2, hom=0)240 overlapping SVs

12 papers

chr1:115663998 G>A

NM_138959.3

p.R181Q

c.542G>A

Strabismus

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=9, hom=0)240 overlapping SVs

11 papers

chr1:115663802 G>A

NM_138959.3

p.A116T

c.346G>A

Strabismus

Exome: 14.9% (AC=217427, hom=17083)Genome: 12.7% (AC=19291, hom=1344)240 overlapping SVs

9 papers

chr1:115663704 C>T

NM_138959.3

p.S83L

c.248C>T

Strabismus

Exome: 0.0% (AC=67, hom=0)Genome: 0.0% (AC=17, hom=0)240 overlapping SVs

6 papers

chr1:115664060 C>T

NM_138959.3

p.L202F

c.604C>T

Strabismus

exact variant not in gnomAD240 overlapping SVs

6 papers

chr1:115685423 G>T

NM_138959.3

p.A404S

c.1210G>T

Strabismus

Exome: 0.0% (AC=4, hom=0)Genome: n/a240 overlapping SVs

5 papers

chr1:115663914 T>C

NM_138959.3

p.F153S

c.458T>C

Strabismus

exact variant not in gnomAD240 overlapping SVs

5 papers

chr1:115664013 G>A

NM_138959.3

p.R186H

c.557G>A

Strabismus

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=4, hom=0)240 overlapping SVs

5 papers

chr1:115684037 A>C

NM_138959.3

p.E347A

c.1040A>C

Strabismus

Exome: 0.2% (AC=2292, hom=55)Genome: 1.6% (AC=2364, hom=57)240 overlapping SVs

5 papers

chr1:115685340 A>G

NM_138959.3

p.Q376R

c.1127A>G

Strabismus

Exome: 0.0% (AC=150, hom=0)Genome: 0.0% (AC=28, hom=0)240 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."