Varaico: Literature-Extracted Genetic Variants

Gene:VANGL1
Variant:p.H350H

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
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_138959.3
p.H350H
c.1050T>C
Surrounding Variants
1 paper
NM_138959.3
p.H350R
c.1049A>G
1 paper
NM_138959.3
p.R353*
c.1057C>T
5 papers
NM_138959.3
p.E347A
c.1040A>C
1 paper
NM_138959.3
p.K355N
c.1065G>C
1 paper
NM_138959.3
p.K355N
c.1065G>T
1 paper
NM_138959.3
p.K356K
c.1068G>A
2 papers
NM_138959.3
p.S338*
c.1013C>A
2 papers
NM_138959.3
p.S338*
c.1013C>G
1 paper
NM_138959.3
p.R336R
c.1008G>A
2 papers
NM_138959.3
p.R335C
c.1003C>T
1 paper
NM_138959.3
p.R334Q
c.1001G>A
1 paper
NM_138959.3
p.R334W
c.1000C>T
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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."