Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM2
Variant:p.S1251C

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.S1251C
c.3751A>T
Surrounding Variants
1 paper
NM_001649.4
p.T1252T
c.3756A>G
2 papers
NM_001649.4
p.D1245H
c.3733G>C
1 paper
NM_001649.4
p.S1258L
c.3773C>T
1 paper
NM_001649.4
p.H1240H
c.3720C>T
1 paper
NM_001649.4
p.S1219R
c.3657C>A
1 paper
NM_001649.4
p.S1219R
c.3657C>G
1 paper
NM_001649.4
p.S1219R
c.3655A>C
1 paper
NM_001320664.2
p.P118L
c.353C>T
1 paper
NM_001649.4
p.S1217ins6
c.3650_3651ins18
1 paper
NM_001649.4
p.G1285V
c.3854G>T
1 paper
NM_001649.4
p.V1215M
c.3643G>A
1 paper
NM_001649.4
p.S1297F
c.3890C>T
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