Varaico: Literature-Extracted Genetic Variants

Gene:MEP1A
Variant:p.V469L

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
4 papers
NM_005588.3
p.V469L
c.1405G>T
Surrounding Variants
4 papers
NM_005588.3
p.V469L
c.1405G>C
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.S475R
c.1423A>C
2 papers
NM_005588.3
p.S475N
c.1424G>A
1 paper
NM_005588.3
p.S462S
c.1386G>A
1 paper
NM_005588.3
p.S475R
c.1425C>A
1 paper
NM_005588.3
p.S475R
c.1425C>G
1 paper
NM_005588.3
p.R476G
c.1426A>G
1 paper
NM_005588.3
p.R458*
c.1372C>T
1 paper
NM_005588.3
p.W499R
c.1495T>A
1 paper
NM_005588.3
p.W499R
c.1495T>C
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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."