Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.P483L

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
3 papers
NM_001105247.2
p.P483L
c.1448C>T
Surrounding Variants
5 papers
NM_001105247.2
p.W476*
c.1428G>A
5 papers
NM_001105247.2
p.W476*
c.1427G>A
1 paper
NM_001105247.2
p.A492delFs
c.1474delG
1 paper
NM_001105247.2
p.A492P
c.1474G>C
6 papers
NM_001105247.2
p.A492fs
c.1474_1475fs
2 papers
NM_001105247.2
p.P474A
c.1420C>G
1 paper
NM_001105247.2
p.P495S
c.1483C>T
1 paper
NM_001105247.2
p.P495P
c.1485G>A
1 paper
NM_001301820.1
p.S529insFs
c.1586dupC
2 papers
NM_001105247.2
p.S497*
c.1490C>A
1 paper
NM_001105247.2
p.S497L
c.1490C>T
1 paper
NM_001288767.2
p.L593L
c.1777C>T
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."