Varaico: Literature-Extracted Genetic Variants

Gene:MME
Variant:p.L161S

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.L161S
c.482T>C
Surrounding Variants
1 paper
NM_007289.4
p.D163H
c.487G>C
1 paper
NM_007289.4
p.K159delFs
c.476delA
1 paper
NM_007289.4
p.P156L
c.467C>T
9 papers
NM_007289.4
p.P156fs
c.466_467fs
15 papers
NM_007289.4
p.P156delFs
c.467delC
2 papers
NM_007289.4
p.W167R
c.499T>A
1 paper
NM_007289.4
p.W167R
c.499T>C
1 paper
NM_007289.4
p.E155K
c.463G>A
1 paper
NM_007289.4
p.P168A
c.502C>G
2 papers
NM_007289.4
p.P168S
c.502C>T
1 paper
NM_007289.4
p.A170V
c.509C>T
4 papers
NM_007289.4
p.S147Splc
c.440-2A>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."