Varaico: Literature-Extracted Genetic Variants

Gene:MME
Variant:p.T100delFs

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
3 papers
NM_007289.4
p.T100delFs
c.298delA
Surrounding Variants
4 papers
NM_007289.4
p.T100fs
c.298_299fs
1 paper
NM_007289.4
p.P98P
c.294C>T
1 paper
NM_007289.4
p.R103H
c.308G>A
1 paper
NM_007289.4
p.D108N
c.322G>A
1 paper
NM_007289.4
p.C88*
c.264C>A
1 paper
NM_007289.4
p.E115_K119del0
c.344_355del12
1 paper
NM_007289.4
p.V116I
c.346G>A
1 paper
NM_007289.4
p.T81I
c.242C>T
1 paper
NM_007289.4
p.D120N
c.358G>A
1 paper
NM_007289.4
p.D120A
c.359A>C
1 paper
NM_007289.4
p.P79T
c.235C>A
1 paper
NM_007289.4
p.T77fs
c.229_230fs
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."