Varaico: Literature-Extracted Genetic Variants

Gene:MME
Variant:p.R448*

MME

247 papers

RefSeq Summary

The protein encoded by this gene is a type II transmembrane glycoprotein and a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lympho...

Pfam Domains

Peptidase_M13_Naa 79–483UCSCPeptidase family M13
Peptidase_M13aa 543–749UCSCPeptidase family M13

Gene Aliases

HGNC Name

membrane metalloendopeptidase

HGNC Alias Symbols

CALLA; NEP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
13 papers
NM_007289.4
p.R448*
c.1342C>T
Surrounding Variants
1 paper
NM_007289.4
p.E449*
c.1345G>T
1 paper
NM_007289.4
p.M461_E464delFs
c.1382_1391del10
1 paper
NM_007289.4
p.E464Q
c.1390G>C
1 paper
NM_007289.4
p.E464D
c.1392G>C
1 paper
NM_007289.4
p.E464D
c.1392G>T
3 papers
NM_007289.4
p.K472_A473Splc
c.1416+2T>C
1 paper
NM_007289.4
p.V439_V440Splc
c.1317+1G>C
1 paper
NM_007289.4
p.S436G
c.1306A>G
1 paper
NM_007289.4
p.A431T
c.1291G>A
1 paper
NM_007289.4
p.V428V
c.1284G>C
1 paper
NM_007289.4
p.V428M
c.1282G>A
1 paper
NM_007289.4
p.V428L
c.1282G>C
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