Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.R593W

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
15 papers
NM_001105247.2
p.R593W
c.1777C>T
Surrounding Variants
3 papers
NM_001105247.2
p.R593P
c.1778G>C
1 paper
NM_001105247.2
p.L596del1
c.1786_1788delCTG
1 paper
NM_001105247.2
p.A590E
c.1769C>A
2 papers
NM_001105247.2
p.L596R
c.1787T>G
1 paper
NM_001105247.2
p.A589V
c.1766C>T
1 paper
NM_001105247.2
p.V600_A601insGTG
c.1798_1802ins9
1 paper
NM_001105247.2
p.V600E
c.1799T>A
2 papers
NM_001105247.2
p.R585fs
c.1753_1754fs
3 papers
NM_001105247.2
p.V584E
c.1751T>A
2 papers
NM_001105247.2
p.R585delFs
c.1754_1755delGC
4 papers
NM_001105247.2
p.V584fs
c.1750_1751fs
1 paper
NM_001105247.2
p.F583fs
c.1747_1748fs
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