Varaico: Literature-Extracted Genetic Variants

Gene:MMD
Variant:p.A137V

MMD

45 papers

RefSeq Summary

This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential transmembrane domains, this protein has littl...

Pfam Domains

HlyIIIaa 24–220UCSCHaemolysin-III related

Gene Aliases

HGNC Name

monocyte to macrophage differentiation associated

HGNC Alias Symbols

MMA; PAQR11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012329.3
p.A137V
c.410C>T
Surrounding Variants
1 paper
NM_012329.3
p.K151R
c.452A>G
1 paper
NM_012329.3
p.M161T
c.482T>C
1 paper
NM_012329.3
p.A166A
c.498C>G
1 paper
NM_012329.3
p.D100G
c.299A>G
1 paper
NM_012329.3
p.H88R
c.263A>G
1 paper
NM_012329.3
p.G45delFs
c.133delC
1 paper
NM_012329.3
p.A182V
c.545C>T
1 paper
NM_012329.3
p.G185A
c.554G>C
1 paper
NM_012329.3
p.L190W
c.569T>G
1 paper
NM_012329.3
p.I200insFs
c.598dupA
1 paper
NM_012329.3
p.I207insFs
c.620_621insA
1 paper
NM_012329.3
p.A215T
c.643G>A
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