Varaico: Literature-Extracted Genetic Variants

Gene:MMEL1
Variant:p.*780Q

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.*780Q
c.2338T>C
Surrounding Variants
1 paper
NM_033467.4
p.R775*
c.2323C>T
1 paper
NM_033467.4
p.R766W
c.2296C>T
1 paper
NM_033467.4
p.T761M
c.2282C>T
1 paper
NM_033467.4
p.R747Splc
c.2241-69G>A
1 paper
NM_033467.4
p.P743H
c.2228C>A
1 paper
NM_033467.4
p.S742I
c.2225G>T
2 papers
NM_033467.4
p.S742G
c.2224A>G
1 paper
NM_033467.4
p.H711R
c.2132A>G
1 paper
NM_033467.4
p.H711N
c.2131C>A
3 papers
NM_033467.4
p.D708N
c.2122G>A
2 papers
NM_033467.4
p.G706S
c.2116G>A
3 papers
NM_033467.4
p.D701E
c.2103C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."