Varaico: Literature-Extracted Genetic Variants

Gene:MME
Variant:p.R23P

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
1 paper
NM_007289.4
p.R23P
c.68G>C
Surrounding Variants
2 papers
NM_007289.4
p.R23Q
c.68G>A
4 papers
NM_007289.4
p.W24*
c.71G>A
4 papers
NM_007289.4
p.W24*
c.72G>A
1 paper
NM_007289.4
p.P16P
c.48A>T
1 paper
NM_007289.4
p.T15A
c.43A>G
1 paper
NM_007289.4
p.V33G
c.98T>G
2 papers
NM_007289.4
p.L34V
c.100C>G
3 papers
NM_007289.4
p.D12A
c.35A>C
1 paper
NM_007289.4
p.D9E
c.27T>A
2 papers
NM_007289.4
p.M8V
c.22A>G
1 paper
NM_007289.4
p.T39S
c.115A>T
1 paper
NM_007289.4
p.E5D
c.15A>C
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