Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.T503fs

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.T503fs
c.1507_1508fs
Surrounding Variants
1 paper
NM_001105247.2
p.T503fs
c.1507_1508fs
4 papers
NM_001105247.2
p.R502H
c.1505G>A
4 papers
NM_001105247.2
p.R502_T503delFs
c.1506_1507delCA
8 papers
NM_001105247.2
p.R502fs
c.1504_1505fs
1 paper
NM_001105247.2
p.R505L
c.1514G>T
2 papers
NM_001105247.2
p.A500V
c.1499C>T
7 papers
NM_001105247.2
p.P507L
c.1520C>T
1 paper
NM_001105247.2
p.L498P
c.1493T>C
1 paper
NM_001288767.2
p.L593L
c.1777C>T
2 papers
NM_001105247.2
p.S497*
c.1490C>A
1 paper
NM_001105247.2
p.S497L
c.1490C>T
1 paper
NM_001301820.1
p.S529insFs
c.1586dupC
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