Varaico: Literature-Extracted Genetic Variants

Gene:MMEL1
Variant:p.M258L

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.M258L
c.772A>T
Surrounding Variants
2 papers
NM_033467.4
p.M258L
c.772A>C
1 paper
NM_033467.4
p.M258I
c.774G>T
1 paper
NM_033467.4
p.M258I
c.774G>C
1 paper
NM_033467.4
p.M258I
c.774G>A
1 paper
NM_033467.4
p.R261*
c.781C>T
1 paper
NM_033467.4
p.R261P
c.782G>C
1 paper
NM_033467.4
p.R261Q
c.782G>A
1 paper
NM_033467.4
p.I251insFs
c.752dupT
1 paper
NM_033467.4
p.Y250_I251Splc
c.751-10G>A
1 paper
NM_033467.4
p.Y250_I251Splc
c.751-11T>C
3 papers
NM_033467.4
p.R271W
c.811C>T
1 paper
NM_033467.4
p.I248V
c.742A>G
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