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.L339F

c.1017G>C

Surrounding Variants

1 paper

NM_002425.3

p.L339F

c.1017G>T

1 paper

NM_002425.3

p.A342S

c.1024G>T

1 paper

NM_002425.3

p.Y343H

c.1027T>C

1 paper

NM_002425.3

p.L335I

c.1003C>A

1 paper

NM_002425.3

p.R315Q

c.944G>A

1 paper

NM_002425.3

p.K288R

c.863A>G

1 paper

NM_002425.3

p.G282E

c.845G>A

1 paper

NM_002425.3

p.S281W

c.842C>G

1 paper

NM_002425.3

p.T269T

c.807T>A

1 paper

NM_002425.3

p.Y262C

c.785A>G

1 paper

NM_002425.3

p.L245P

c.734T>C

1 paper

NM_002425.3

p.L234_M235insAA

c.700_704ins6