Varaico: Literature-Extracted Genetic Variants

Gene:MMEL1
Variant:p.A573A

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.A573A
c.1719G>A
Surrounding Variants
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.R579*
c.1735C>T
1 paper
NM_033467.4
p.A568delFs
c.1702delC
1 paper
NM_033467.4
p.R579L
c.1736G>T
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.R550W
c.1648C>T
1 paper
NM_033467.4
p.A548D
c.1643C>A
1 paper
NM_033467.4
p.V546A
c.1637T>C
1 paper
NM_033467.4
p.K545N
c.1635G>T
1 paper
NM_033467.4
p.K545N
c.1635G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."