Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM2
Variant:p.G211S

SHROOM2

132 papers

RefSeq Summary

This gene represents the human homolog of Xenopus laevis apical protein (APX) gene, which is implicated in amiloride-sensitive sodium channel activity. It is expressed in endothelial cells and facilit...

Pfam Domains

PDZaa 26–105UCSCPDZ domain
ASD1aa 640–806UCSCApx/Shroom domain ASD1
ASD2aa 1318–1610UCSCApx/Shroom domain ASD2

Gene Aliases

HGNC Name

shroom family member 2

HGNC Previous Symbol

APXL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001649.4
p.G211S
c.631G>A
Surrounding Variants
1 paper
NM_001649.4
p.S208L
c.623C>T
1 paper
NM_001649.4
p.T223I
c.668C>T
1 paper
NM_001649.4
p.S196R
c.588C>A
1 paper
NM_001649.4
p.S196R
c.588C>G
1 paper
NM_001649.4
p.S196R
c.586A>C
1 paper
NM_001649.4
p.D228N
c.682G>A
1 paper
NM_001649.4
p.T229M
c.686C>T
1 paper
NM_001649.4
p.T229T
c.687G>A
1 paper
NM_001649.4
p.A232T
c.694G>A
1 paper
NM_001649.4
p.S189L
c.566C>T
1 paper
NM_001649.4
p.Q247Q
c.741G>A
1 paper
NM_001649.4
p.A252D
c.755C>A
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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."