Varaico: Literature-Extracted Genetic Variants

Gene:VANGL2

VANGL2

126 papers

RefSeq Summary

The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directi...

Pfam Domains

Strabismusaa 22–521UCSCStrabismus protein

Gene Aliases

HGNC Name

VANGL planar cell polarity protein 2

HGNC Alias Symbols

KIAA1215; LPP1; STBM; STB1; STBM1; MGC119403; MGC119404

Papers
RefSeq ID
Protein change
DNA change
1–12 of 167 variants
18 papers
NM_020335.3
p.S464N
c.1391G>A
12 papers
NM_020335.3
p.D255E
c.765C>A
12 papers
NM_020335.3
p.D255E
c.765C>G
11 papers
NM_020335.3
p.R135W
c.403C>T
11 papers
NM_020335.3
p.R353C
c.1057C>T
10 papers
NM_020335.3
p.F437S
c.1310T>C
9 papers
NM_020335.3
p.R177H
c.530G>A
9 papers
NM_020335.3
p.L242V
c.724C>G
8 papers
NM_020335.3
p.S84F
c.251C>T
8 papers
NM_020335.3
p.R270H
c.809G>A
7 papers
NM_020335.3
p.T247M
c.740C>T
5 papers
NM_020335.3
p.R259L
c.776G>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."