Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM2
Variant:p.S261A

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
1 paper
NM_001649.4
p.S261A
c.781T>G
Surrounding Variants
1 paper
NM_001649.4
p.S266_C267del2
c.796_800del6
1 paper
NM_001649.4
p.S266_C267del1
c.797_799delGTT
1 paper
NM_001649.4
p.A252D
c.755C>A
1 paper
NM_001649.4
p.P270insFs
c.810dupC
1 paper
NM_001649.4
p.P270H
c.809C>A
1 paper
NM_001649.4
p.G274S
c.820G>A
1 paper
NM_001649.4
p.Q247Q
c.741G>A
1 paper
NM_001649.4
p.G279S
c.835G>A
1 paper
NM_001649.4
p.A232T
c.694G>A
1 paper
NM_001649.4
p.T229T
c.687G>A
1 paper
NM_001649.4
p.T229M
c.686C>T
1 paper
NM_001649.4
p.D228N
c.682G>A
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