Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.K31*

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
3 papers
NM_001105247.2
p.K31*
c.91A>T
Surrounding Variants
2 papers
NM_001105247.2
p.K31R
c.92A>G
1 paper
NM_001105247.2
p.E30K
c.88G>A
2 papers
NM_001288767.2
p.P128S
c.382C>T
NM_001105247.2
p.P33S
c.97C>T
1 paper
NM_001105247.2
p.E25fs
c.73_74fs
1 paper
NM_001105247.2
p.E37V
c.110A>T
1 paper
NM_001105247.2
p.G24V
c.71G>T
1 paper
NM_001105247.2
p.G24W
c.70G>T
1 paper
NM_001105247.2
p.E25delFs
c.73delG
1 paper
NM_001105247.2
p.L40delFs
c.118delC
1 paper
NM_001105247.2
p.A23del1
c.67_68delGCC
1 paper
NM_001105247.2
p.L40delFs
c.119delT
1 paper
NM_001105247.2
p.A43_L44insFs
c.127_130dup4
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