Varaico: Literature-Extracted Genetic Variants

Gene:MMEL1
Variant:p.Q598*

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.Q598*
c.1792C>T
Surrounding Variants
1 paper
NM_033467.4
p.P591fs
c.1771_1772fs
1 paper
NM_033467.4
p.Q590H
c.1770G>T
1 paper
NM_033467.4
p.R579L
c.1736G>T
1 paper
NM_033467.4
p.R579*
c.1735C>T
1 paper
NM_033467.4
p.A573A
c.1719G>A
1 paper
NM_033467.4
p.V571A
c.1712T>C
1 paper
NM_033467.4
p.A568fs
c.1702_1703fs
1 paper
NM_033467.4
p.A568delFs
c.1702delC
1 paper
NM_033467.4
p.V559E
c.1676T>A
1 paper
NM_033467.4
p.K558*
c.1672A>T
1 paper
NM_033467.4
p.D627N
c.1879G>A
1 paper
NM_033467.4
p.R550W
c.1648C>T
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