Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.R619Q

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
2 papers
NM_001105247.2
p.R619Q
c.1856G>A
Surrounding Variants
1 paper
NM_001105247.2
p.R619P
c.1856G>C
13 papers
NM_001105247.2
p.R619*
c.1855C>T
3 papers
NM_001105247.2
p.H618fs
c.1852_1853fs
1 paper
NM_001105247.2
p.R617W
c.1849C>T
4 papers
NM_001105247.2
p.R617delFs
c.1851delG
2 papers
NM_001105247.2
p.G622R
c.1864G>A
2 papers
NM_001105247.2
p.G622R
c.1864G>C
2 papers
NM_001105247.2
p.G622_E623insC
c.1864_1868ins3
1 paper
NM_001105247.2
p.H615D
c.1843C>G
4 papers
NM_001105247.2
p.L614L
c.1842C>G
2 papers
NM_001105247.2
p.R611W
c.1831C>T
1 paper
NM_001288767.2
p.A705V
c.2114C>T
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