Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM2
Variant:p.R751Q

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.R751Q
c.2252G>A
Surrounding Variants
1 paper
NM_001649.4
p.G749R
c.2245G>A
1 paper
NM_001649.4
p.G749R
c.2245G>C
1 paper
NM_001649.4
p.A756A
c.2268T>G
1 paper
NM_001649.4
p.S762delFs
c.2285delC
1 paper
NM_001649.4
p.Y763fs
c.2287_2288fs
1 paper
NM_001649.4
p.T723N
c.2168C>A
1 paper
NM_001649.4
p.R797_K799del3
c.2389_2396del9
1 paper
NM_001649.4
p.R690W
c.2068C>T
1 paper
NM_001649.4
p.L818R
c.2453T>G
1 paper
NM_001649.4
p.G820A
c.2459G>C
1 paper
NM_001649.4
p.P822L
c.2465C>T
1 paper
NM_001649.4
p.A677T
c.2029G>A
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