Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM2
Variant:p.S546P

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.S546P
c.1636T>C
Surrounding Variants
1 paper
NM_001649.4
p.S556R
c.1666A>C
1 paper
NM_001649.4
p.S556R
c.1668C>A
1 paper
NM_001649.4
p.S556R
c.1668C>G
1 paper
NM_001649.4
p.R534W
c.1600C>T
1 paper
NM_001649.4
p.A558V
c.1673C>T
1 paper
NM_001649.4
p.G574W
c.1720G>T
1 paper
NM_001649.4
p.R517H
c.1550G>A
3 papers
NM_001649.4
p.R517C
c.1549C>T
1 paper
NM_001649.4
p.E505D
c.1515G>C
1 paper
NM_001649.4
p.E505D
c.1515G>T
2 papers
NM_001649.4
p.Q592K
c.1774C>A
1 paper
NM_001649.4
p.A606T
c.1816G>A
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