Varaico: Literature-Extracted Genetic Variants

Gene:MME
Variant:p.H218_I219Splc

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
4 papers
NM_007289.4
p.H218_I219Splc
c.655-2A>G
Surrounding Variants
1 paper
NM_007289.4
p.H218_I219Splc
c.655-1G>C
3 papers
NM_007289.4
p.Q221*
c.661C>T
1 paper
NM_007289.4
p.P222A
c.664C>G
1 paper
NM_007289.4
p.R223*
c.667C>T
1 paper
NM_007289.4
p.R223fs
c.667_668fs
6 papers
NM_007289.4
p.G225A
c.674G>C
1 paper
NM_007289.4
p.P227H
c.680C>A
1 paper
NM_007289.4
p.S228F
c.683C>T
1 paper
NM_007289.4
p.G236_I237Fs
c.707_709delinsCCFs
1 paper
NM_007289.4
p.K239insFs
c.716dupA
3 papers
NM_007289.4
p.H218_I219Splc
c.654+1G>A
1 paper
NM_007289.4
p.I217S
c.650T>G
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