Varaico: Literature-Extracted Genetic Variants

Gene:MME
Variant:p.Y414C

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.Y414C
c.1241A>G
Surrounding Variants
2 papers
NM_007289.4
p.R410H
c.1229G>A
3 papers
NM_007289.4
p.C411del1
c.1231_1233delTGT
1 paper
NM_007289.4
p.M419L
c.1255A>C
1 paper
NM_007289.4
p.M419L
c.1255A>T
1 paper
NM_007289.4
p.T407_W408ins0
c.1221_1223dupTTG
5 papers
NM_007289.4
p.A422D
c.1265C>A
1 paper
NM_007289.4
p.G424R
c.1270G>A
1 paper
NM_007289.4
p.G424R
c.1270G>C
1 paper
NM_007289.4
p.E404*
c.1210G>T
1 paper
NM_007289.4
p.V428M
c.1282G>A
1 paper
NM_007289.4
p.V428L
c.1282G>C
1 paper
NM_007289.4
p.V428L
c.1282G>T
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