Varaico: Literature-Extracted Genetic Variants

Gene:MMEL1
Variant:p.A330T

MMEL1

251 papers

RefSeq Summary

The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressur...

Pfam Domains

Peptidase_M13_Naa 111–511UCSCPeptidase family M13
Peptidase_M13aa 572–778UCSCPeptidase family M13

Gene Aliases

HGNC Name

membrane metalloendopeptidase like 1

HGNC Previous Symbol

MMEL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033467.4
p.A330T
c.988G>A
Surrounding Variants
1 paper
NM_033467.4
p.V328I
c.982G>A
1 paper
NM_033467.4
p.E324*
c.970G>T
3 papers
NM_033467.4
p.E323Q
c.967G>C
1 paper
NM_033467.4
p.E339K
c.1015G>A
1 paper
NM_033467.4
p.Q341*
c.1021C>T
1 paper
NM_033467.4
p.K317_A318Splc
c.952-13A>G
1 paper
NM_033467.4
p.K317_A318Splc
c.952-84G>T
1 paper
NM_033467.4
p.K317_A318Splc
c.951+17G>T
1 paper
NM_033467.4
p.L311R
c.932T>G
2 papers
NM_033467.4
p.V308V
c.924G>T
1 paper
NM_033467.4
p.Q302R
c.905A>G
1 paper
NM_033467.4
p.A292A
c.876A>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."