Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.E912K

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.E912K
c.2734G>A
Surrounding Variants
1 paper
NM_001105247.2
p.E918insFs
c.2752dupG
1 paper
NM_001105247.2
p.E918fs
c.2752_2753fs
2 papers
NM_001105247.2
p.A919delFs
c.2755delG
1 paper
NM_001105247.2
p.L905H
c.2714T>A
2 papers
NM_001105247.2
p.A919fs
c.2755_2756fs
1 paper
NM_001105247.2
p.L900fs
c.2698_2699fs
16 papers
NM_001105247.2
p.R898W
c.2692C>T
2 papers
NM_001105247.2
p.C894W
c.2682C>G
1 paper
NM_001105247.2
p.S891L
c.2672C>T
1 paper
NM_001105247.2
p.L889Q
c.2666T>A
1 paper
NM_001105247.2
p.R886H
c.2657G>A
1 paper
NM_001105247.2
p.R886P
c.2657G>C
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