Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.L181insFs

ARMC5

167 papers

RefSeq Summary

This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is impli...

Pfam Domains

ARM_ARMC5aa 127–416UCSCARMC5

Gene Aliases

HGNC Name

armadillo repeat containing 5

HGNC Alias Symbol

FLJ13063

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001105247.2
p.L181insFs
c.543dupA
Surrounding Variants
1 paper
NM_001105247.2
p.A182fs
c.544_545fs
1 paper
NM_001105247.2
p.A182V
c.545C>T
1 paper
NM_001105247.2
p.G179R
c.535G>A
1 paper
NM_001105247.2
p.G179R
c.535G>C
2 papers
NM_001105247.2
p.E184*
c.550G>T
1 paper
NM_001105247.2
p.E184fs
c.550_551fs
1 paper
NM_001105247.2
p.E184_E186Fs
c.550_558delinsTTFs
1 paper
NM_001105247.2
p.L178_P185insFs
c.534_555dup22
1 paper
NM_001105247.2
p.R176C
c.526C>T
5 papers
NM_001105247.2
p.A175fs
c.523_524fs
5 papers
NM_001105247.2
p.A175delFs
c.523delG
7 papers
NM_001105247.2
p.R173*
c.517C>T
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