Varaico: Literature-Extracted Genetic Variants

Gene:MEP1A

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
1–12 of 85 variants
5 papers
NM_005588.3
p.T726M
c.2177C>T
4 papers
NM_005588.3
p.V469L
c.1405G>C
4 papers
NM_005588.3
p.V469L
c.1405G>T
3 papers
NM_005588.3
p.R518Q
c.1553G>A
3 papers
NM_005588.3
p.T606S
c.1816A>T
3 papers
NM_005588.3
p.T606S
c.1817C>G
2 papers
NM_005588.3
p.Y175H
c.523T>C
2 papers
NM_005588.3
p.S475N
c.1424G>A
2 papers
NM_005588.3
p.M634V
c.1900A>G
2 papers
NM_005588.3
p.A692V
c.2075C>T
1 paper
NM_005588.3
p.F11S
c.32T>C
1 paper
NM_005588.3
p.A17V
c.50C>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."