Varaico: Literature-Extracted Genetic Variants

Gene:MMEL1
Variant:p.E491K

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
3 papers
NM_033467.4
p.E491K
c.1471G>A
Surrounding Variants
1 paper
NM_033467.4
p.M489V
c.1465A>G
1 paper
NM_033467.4
p.E485Q
c.1453G>C
1 paper
NM_033467.4
p.F460del1
c.1378_1380delGAA
1 paper
NM_033467.4
p.F460S
c.1379T>C
1 paper
NM_033467.4
p.V456F
c.1366G>T
1 paper
NM_033467.4
p.V456I
c.1366G>A
1 paper
NM_033467.4
p.Y455C
c.1364A>G
1 paper
NM_033467.4
p.L454F
c.1360C>T
1 paper
NM_033467.4
p.A450T
c.1348G>A
1 paper
NM_033467.4
p.R437C
c.1309C>T
1 paper
NM_033467.4
p.V434M
c.1300G>A
1 paper
NM_033467.4
p.V431L
c.1291G>T
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