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

2 papers

NM_002425.3

p.L4V

c.10C>G

Surrounding Variants

1 paper

NM_002425.3

p.L10*

c.29T>A

1 paper

NM_002425.3

p.C11S

c.31T>A

1 paper

NM_002425.3

p.C11delFs

c.32_33delAC

1 paper

NM_002425.3

p.Y18N

c.52T>A

1 paper

NM_002425.3

p.L33F

c.97C>T

1 paper

NM_002425.3

p.L33R

c.98T>G

1 paper

NM_002425.3

p.Q35*

c.103C>T

1 paper

NM_002425.3

p.K40N

c.120G>T

1 paper

NM_002425.3

p.K40N

c.120G>C

5 papers

NM_002425.3

p.R53K

c.158G>A

1 paper

NM_002425.3

p.I63insFs

c.188_189insA

2 papers

NM_002425.3

p.I63fs

c.187_188fs