Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM2
Variant:p.A345V

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.A345V
c.1034C>T
Surrounding Variants
1 paper
NM_001649.4
p.Q336H
c.1008G>C
1 paper
NM_001649.4
p.Q336H
c.1008G>T
1 paper
NM_001649.4
p.A335Fs
c.1003delinsGAFs
1 paper
NM_001649.4
p.A335S
c.1003G>T
1 paper
NM_001649.4
p.S331insFs
c.992_993insCG
1 paper
NM_001649.4
p.D367N
c.1099G>A
2 papers
NM_001649.4
p.R368W
c.1102C>T
1 paper
NM_001649.4
p.W370C
c.1110G>C
1 paper
NM_001649.4
p.W370C
c.1110G>T
1 paper
NM_001649.4
p.P319H
c.956C>A
1 paper
NM_001649.4
p.D394D
c.1182C>T
1 paper
NM_001649.4
p.D402V
c.1205A>T
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