Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.R764P

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.R764P
c.2291G>C
Surrounding Variants
10 papers
NM_001105247.2
p.R764*
c.2290C>T
3 papers
NM_001105247.2
p.S767*
c.2300C>A
3 papers
NM_001105247.2
p.S767*
c.2300C>G
2 papers
NM_001105247.2
p.A768P
c.2302G>C
8 papers
NM_001105247.2
p.L754P
c.2261T>C
1 paper
NM_001105247.2
p.F774S
c.2321T>C
1 paper
NM_001105247.2
p.R775W
c.2323C>T
2 papers
NM_001105247.2
p.F752F
c.2256C>T
1 paper
NM_001105247.2
p.L778P
c.2333T>C
4 papers
NM_001105247.2
p.S779*
c.2336C>A
4 papers
NM_001105247.2
p.S779*
c.2336C>G
1 paper
NM_001301820.1
p.G812delFs
c.2436delC
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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."