Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM2
Variant:p.A1331P

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.A1331P
c.3991G>C
Surrounding Variants
3 papers
NM_001649.4
p.A1331S
c.3991G>T
NM_001320664.2
p.A166S
c.496G>T
1 paper
NM_001649.4
p.S1329F
c.3986C>T
1 paper
NM_001649.4
p.E1318D
c.3954G>C
1 paper
NM_001649.4
p.E1318D
c.3954G>T
1 paper
NM_001649.4
p.G1349V
c.4046G>T
1 paper
NM_001649.4
p.S1297F
c.3890C>T
1 paper
NM_001649.4
p.G1285V
c.3854G>T
1 paper
NM_001320664.2
p.P118L
c.353C>T
1 paper
NM_001649.4
p.E1379Q
c.4135G>C
1 paper
NM_001649.4
p.S1258L
c.3773C>T
1 paper
NM_001649.4
p.T1252T
c.3756A>G
1 paper
NM_001649.4
p.S1251C
c.3751A>T
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