Varaico: Literature-Extracted Genetic Variants

Gene:MEP1A
Variant:p.I178T

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.I178T
c.533T>C
Surrounding Variants
1 paper
NM_005588.3
p.I178I
c.534C>A
1 paper
NM_005588.3
p.N177K
c.531C>A
2 papers
NM_005588.3
p.Y175H
c.523T>C
1 paper
NM_005588.3
p.T170M
c.509C>T
1 paper
NM_005588.3
p.G162E
c.485G>A
1 paper
NM_005588.3
p.I143V
c.427A>G
1 paper
NM_005588.3
p.W129R
c.385T>C
1 paper
NM_005588.3
p.D196G
c.587A>G
1 paper
NM_005588.3
p.I232fs
c.694_695fs
1 paper
NM_005588.3
p.R242H
c.725G>A
1 paper
NM_005588.3
p.L250*
c.749T>A
1 paper
NM_005588.3
p.T270T
c.810T>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."