Varaico: Literature-Extracted Genetic Variants

Gene:MMEL1
Variant:p.R289W

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.R289W
c.865C>T
Surrounding Variants
1 paper
NM_033467.4
p.D291N
c.871G>A
1 paper
NM_033467.4
p.A292A
c.876A>C
1 paper
NM_033467.4
p.A292_N293insFs
c.876_877insTT
1 paper
NM_033467.4
p.M281_V282del2
c.841_845del6
1 paper
NM_033467.4
p.M281T
c.842T>C
1 paper
NM_033467.4
p.Q302R
c.905A>G
1 paper
NM_033467.4
p.E275*
c.823G>T
2 papers
NM_033467.4
p.V308V
c.924G>T
1 paper
NM_033467.4
p.L311R
c.932T>G
1 paper
NM_033467.4
p.K317_A318Splc
c.951+17G>T
1 paper
NM_033467.4
p.K317_A318Splc
c.952-84G>T
1 paper
NM_033467.4
p.K317_A318Splc
c.952-13A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."