Varaico: Literature-Extracted Genetic Variants

Gene:MMEL1
Variant:p.I248V

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.I248V
c.742A>G
Surrounding Variants
1 paper
NM_033467.4
p.H247R
c.740A>G
1 paper
NM_033467.4
p.S244C
c.731C>G
1 paper
NM_033467.4
p.S244P
c.730T>C
1 paper
NM_033467.4
p.N239Y
c.715A>T
1 paper
NM_033467.4
p.L235I
c.703C>A
1 paper
NM_033467.4
p.Q226*
c.676C>T
1 paper
NM_033467.4
p.E215*
c.643G>T
1 paper
NM_033467.4
p.E215K
c.643G>A
1 paper
NM_033467.4
p.G211E
c.632G>A
1 paper
NM_033467.4
p.G211Splc
c.632-33G>A
1 paper
NM_033467.4
p.G211Splc
c.632-81C>T
1 paper
NM_033467.4
p.Y250_I251Splc
c.751-11T>C
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