Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM2

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
1–12 of 177 variants
3 papers
NM_001649.4
p.G211S
c.631G>A
3 papers
NM_001649.4
p.R517C
c.1549C>T
2 papers
NM_001649.4
p.R368W
c.1102C>T
2 papers
NM_001649.4
p.Q592K
c.1774C>A
2 papers
NM_001649.4
p.S644R
c.1930A>C
2 papers
NM_001649.4
p.S644R
c.1932C>A
2 papers
NM_001649.4
p.S644R
c.1932C>G
2 papers
NM_001649.4
p.D1245H
c.3733G>C
2 papers
NM_001649.4
p.A1331S
c.3991G>T
2 papers
NM_001649.4
p.R1557H
c.4670G>A
2 papers
NM_001649.4
p.A1573V
c.4718C>T
1 paper
NM_001649.4
p.M1V
c.1A>G
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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."