Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM2
Variant:p.M1V

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.M1V
c.1A>G
Surrounding Variants
1 paper
NM_001649.4
p.M1_E2insFs
c.3_4insA
1 paper
NM_001649.4
p.E5Q
c.13G>C
1 paper
NM_001649.4
p.E5*
c.13G>T
1 paper
NM_001649.4
p.E5fs
c.13_14fs
1 paper
NM_001649.4
p.P6S
c.16C>T
1 paper
NM_001649.4
p.P6P
c.18C>T
1 paper
NM_001649.4
p.G24A
c.71G>C
1 paper
NM_001649.4
p.R25S
c.73C>A
1 paper
NM_001649.4
p.R25R
c.75C>A
1 paper
NM_001649.4
p.R25R
c.75C>G
1 paper
NM_001649.4
p.E28K
c.82G>A
1 paper
NM_001649.4
p.Q30K
c.88C>A
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