Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.Y549*

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.Y549*
c.1647C>A
Surrounding Variants
1 paper
NM_001105247.2
p.Y549*
c.1647C>G
9 papers
NM_001105247.2
p.L548P
c.1643T>C
4 papers
NM_001105247.2
p.A547A
c.1641G>A
2 papers
NM_001105247.2
p.G557_G560insFs
c.1671_1678dup8
1 paper
NM_001105247.2
p.T556I
c.1667C>T
4 papers
NM_001105247.2
p.P559L
c.1676C>T
NM_001288767.2
p.P654L
c.1961C>T
2 papers
NM_001105247.2
p.G560fs
c.1678_1679fs
1 paper
NM_001105247.2
p.P536A
c.1606C>G
1 paper
NM_001105247.2
p.P564delFs
c.1691delC
1 paper
NM_001105247.2
p.P536del1
c.1606_1607delCCT
1 paper
NM_001105247.2
p.P564fs
c.1690_1691fs
1 paper
NM_001105247.2
p.A535fs
c.1603_1604fs
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