Varaico: Literature-Extracted Genetic Variants

Gene:MME
Variant:p.S147Splc

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.S147Splc
c.439+2T>A
Surrounding Variants
7 papers
NM_007289.4
p.C143Y
c.428G>A
1 paper
NM_007289.4
p.Q134R
c.401A>G
1 paper
NM_007289.4
p.A132V
c.395C>T
1 paper
NM_007289.4
p.E124delFs
c.371delA
2 papers
NM_007289.4
p.L122L
c.366T>A
4 papers
NM_007289.4
p.S147Splc
c.440-2A>C
1 paper
NM_007289.4
p.E155K
c.463G>A
15 papers
NM_007289.4
p.P156delFs
c.467delC
9 papers
NM_007289.4
p.P156fs
c.466_467fs
1 paper
NM_007289.4
p.P156L
c.467C>T
1 paper
NM_007289.4
p.K159delFs
c.476delA
1 paper
NM_007289.4
p.L161S
c.482T>C
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."