Varaico: Literature-Extracted Genetic Variants

MMP10

119 papers

RefSeq Summary

This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological proces...

Pfam Domains

PG_binding_1aa 28–86UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 107–263UCSCMatrixin

Hemopexinaa 295–337UCSCHemopexin

Hemopexinaa 339–382UCSCHemopexin

Hemopexinaa 387–434UCSCHemopexin

Hemopexinaa 436–476UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 10

HGNC Previous Symbol

STMY2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002425.3

p.D123A

c.368A>C

Surrounding Variants

1 paper

NM_002425.3

p.D123E

c.369T>G

1 paper

NM_002425.3

p.D123E

c.369T>A

1 paper

NM_002425.3

p.D123Y

c.367G>T

1 paper

NM_002425.3

p.P125S

c.373C>T

1 paper

NM_002425.3

p.V129fs

c.385_386fs

2 papers

NM_002425.3

p.V129_D130insFs

c.387_388insA

1 paper

NM_002425.3

p.D130fs

c.388_389fs

1 paper

NM_002425.3

p.E142Q

c.424G>C

1 paper

NM_002425.3

p.G154A

c.461G>C

1 paper

NM_002425.3

p.G154E

c.461G>A

1 paper

NM_002425.3

p.A163V

c.488C>T

1 paper

NM_002425.3

p.V164fs

c.490_491fs