Varaico: Literature-Extracted Genetic Variants

Gene:MMEL1
Variant:p.L43*

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.L43*
c.128T>A
Surrounding Variants
1 paper
NM_033467.4
p.L43M
c.127T>A
1 paper
NM_033467.4
p.D49N
c.145G>A
1 paper
NM_033467.4
p.T37S
c.109A>T
1 paper
NM_033467.4
p.V36delFs
c.108delC
4 papers
NM_033467.4
p.L35del1
c.103_105delCAG
1 paper
NM_033467.4
p.L34_L35del0
c.100_105del6
1 paper
NM_033467.4
p.L35L
c.105G>T
1 paper
NM_033467.4
p.L35_V36ins2
c.105_106ins6
2 papers
NM_033467.4
p.L35V
c.103C>G
1 paper
NM_033467.4
p.L33M
c.97C>A
2 papers
NM_033467.4
p.L29Q
c.86T>A
1 paper
NM_033467.4
p.G52Splc
c.154+17C>A
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