Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.L40delFs

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.L40delFs
c.118delC
Surrounding Variants
1 paper
NM_001105247.2
p.E37V
c.110A>T
1 paper
NM_001105247.2
p.L40delFs
c.119delT
1 paper
NM_001105247.2
p.A43_L44insFs
c.127_130dup4
1 paper
NM_001105247.2
p.R42H
c.125G>A
1 paper
NM_001105247.2
p.L44fs
c.130_131fs
2 papers
NM_001288767.2
p.P128S
c.382C>T
NM_001105247.2
p.P33S
c.97C>T
1 paper
NM_001301820.1
p.L77_G89delFs
c.231_265del35
2 papers
NM_001105247.2
p.K31R
c.92A>G
1 paper
NM_001301820.1
p.A78fs
c.232_233fs
3 papers
NM_001105247.2
p.K31*
c.91A>T
1 paper
NM_001105247.2
p.E30K
c.88G>A
1 paper
NM_001105247.2
p.E25fs
c.73_74fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."