Varaico: Literature-Extracted Genetic Variants

Gene:MME
Variant:p.K198R

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.K198R
c.593A>G
Surrounding Variants
1 paper
NM_007289.4
p.L200delFs
c.599delT
1 paper
NM_007289.4
p.I201fs
c.601_602fs
1 paper
NM_007289.4
p.D209G
c.626A>G
1 paper
NM_007289.4
p.I217S
c.650T>G
1 paper
NM_007289.4
p.G179Splc
c.536-1G>A
3 papers
NM_007289.4
p.H218_I219Splc
c.654+1G>A
1 paper
NM_007289.4
p.K177T
c.530A>C
1 paper
NM_007289.4
p.K177fs
c.529_530fs
1 paper
NM_007289.4
p.K177delFs
c.531delA
1 paper
NM_007289.4
p.A170V
c.509C>T
1 paper
NM_007289.4
p.P168A
c.502C>G
2 papers
NM_007289.4
p.P168S
c.502C>T
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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."