Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.E867*

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
5 papers
NM_001105247.2
p.E867*
c.2599G>T
Surrounding Variants
2 papers
NM_001105247.2
p.P866L
c.2597C>T
1 paper
NM_001105247.2
p.S868A
c.2602T>G
2 papers
NM_001105247.2
p.S868_V869delFs
c.2604_2607del4
2 papers
NM_001105247.2
p.G870fs
c.2608_2609fs
2 papers
NM_001105247.2
p.E871*
c.2611G>T
1 paper
NM_001105247.2
p.F873F
c.2619C>T
2 papers
NM_001105247.2
p.R879W
c.2635C>T
5 papers
NM_001105247.2
p.V855delFs
c.2564delT
5 papers
NM_001105247.2
p.V855fs
c.2563_2564fs
1 paper
NM_001105247.2
p.H883delFs
c.2647delC
2 papers
NM_001105247.2
p.H883Y
c.2647C>T
1 paper
NM_001105247.2
p.A885_R886del2
c.2653_2657del6
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