Varaico: Literature-Extracted Genetic Variants

Gene:MMEL1
Variant:p.H711R

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.H711R
c.2132A>G
Surrounding Variants
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
3 papers
NM_033467.4
p.D701E
c.2103C>A
1 paper
NM_033467.4
p.L692L
c.2076C>T
2 papers
NM_033467.4
p.S742G
c.2224A>G
1 paper
NM_033467.4
p.S742I
c.2225G>T
1 paper
NM_033467.4
p.P743H
c.2228C>A
1 paper
NM_033467.4
p.Y688C
c.2063A>G
1 paper
NM_033467.4
p.A679T
c.2035G>A
4 papers
NM_033467.4
p.I678T
c.2033T>C
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