Varaico: Literature-Extracted Genetic Variants

Gene:MMEL1
Variant:p.S13G

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.S13G
c.37A>G
Surrounding Variants
1 paper
NM_033467.4
p.S13T
c.38G>C
2 papers
NM_033467.4
p.E12delFs
c.35delT
1 paper
NM_033467.4
p.A14V
c.41C>T
1 paper
NM_033467.4
p.R16H
c.47G>A
1 paper
NM_033467.4
p.A17T
c.49G>A
1 paper
NM_033467.4
p.A17delFs
c.51delT
1 paper
NM_033467.4
p.P7P
c.21A>C
1 paper
NM_033467.4
p.M1_G6del0
c.1_18del18
1 paper
NM_033467.4
p.S4Y
c.11C>A
1 paper
NM_033467.4
p.K3N
c.9G>T
1 paper
NM_033467.4
p.G28A
c.83G>C
2 papers
NM_033467.4
p.L29Q
c.86T>A
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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."