Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM2
Variant:p.G1478D

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.G1478D
c.4433G>A
Surrounding Variants
1 paper
NM_001649.4
p.V1479I
c.4435G>A
1 paper
NM_001649.4
p.I1475V
c.4423A>G
1 paper
NM_001649.4
p.A1470T
c.4408G>A
1 paper
NM_001649.4
p.D1521N
c.4561G>A
1 paper
NM_001649.4
p.A1523T
c.4567G>A
1 paper
NM_001649.4
p.E1533K
c.4597G>A
1 paper
NM_001649.4
p.R1554C
c.4660C>T
2 papers
NM_001649.4
p.R1557H
c.4670G>A
2 papers
NM_001649.4
p.A1573V
c.4718C>T
1 paper
NM_001649.4
p.L1607F
c.4821G>C
1 paper
NM_001649.4
p.L1607F
c.4821G>T
1 paper
NM_001649.4
p.S1425L
c.4274C>T
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