Varaico: Literature-Extracted Genetic Variants

Gene:MEP1A
Variant:p.P430R

MEP1A

62 papers

Pfam Domains

Astacinaa 67–258UCSCAstacin (Peptidase family M12A)
MAMaa 269–432UCSCMAM domain, meprin/A5/mu
MATH_2aa 433–593UCSCMATH domain
EGFaa 674–708UCSCEGF-like domain

Gene Aliases

HGNC Name

meprin A subunit alpha

HGNC Alias Symbol

PPHA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005588.3
p.P430R
c.1289C>G
Surrounding Variants
1 paper
NM_005588.3
p.D422E
c.1266T>A
1 paper
NM_005588.3
p.D422E
c.1266T>G
1 paper
NM_005588.3
p.G418G
c.1254A>G
1 paper
NM_005588.3
p.R458*
c.1372C>T
1 paper
NM_005588.3
p.R402H
c.1205G>A
1 paper
NM_005588.3
p.R402C
c.1204C>T
1 paper
NM_005588.3
p.S462S
c.1386G>A
1 paper
NM_005588.3
p.G464R
c.1390G>A
1 paper
NM_005588.3
p.G464R
c.1390G>C
1 paper
NM_005588.3
p.K396R
c.1187A>G
4 papers
NM_005588.3
p.V469L
c.1405G>C
4 papers
NM_005588.3
p.V469L
c.1405G>T
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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."