Varaico: Literature-Extracted Genetic Variants

Gene:MEP1A
Variant:p.L250*

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.L250*
c.749T>A
Surrounding Variants
1 paper
NM_005588.3
p.R242H
c.725G>A
1 paper
NM_005588.3
p.I232fs
c.694_695fs
1 paper
NM_005588.3
p.D196G
c.587A>G
1 paper
NM_005588.3
p.T270T
c.810T>C
1 paper
NM_005588.3
p.M279I
c.837G>A
1 paper
NM_005588.3
p.M279I
c.837G>C
1 paper
NM_005588.3
p.M279I
c.837G>T
1 paper
NM_005588.3
p.Q296*
c.886C>T
1 paper
NM_005588.3
p.D301V
c.902A>T
1 paper
NM_005588.3
p.L304F
c.912G>C
1 paper
NM_005588.3
p.L304F
c.912G>T
1 paper
NM_005588.3
p.T319I
c.956C>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."