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

5 papers

NM_002425.3

p.Y400*

c.1200C>G

Surrounding Variants

6 papers

NM_002425.3

p.Y400*

c.1200C>A

1 paper

NM_002425.3

p.K394N

c.1182G>T

1 paper

NM_002425.3

p.K394N

c.1182G>C

2 papers

NM_002425.3

p.D393H

c.1177G>C

2 papers

NM_002425.3

p.A390S

c.1168G>T

1 paper

NM_002425.3

p.A390T

c.1168G>A

2 papers

NM_002425.3

p.I387_D388insA

c.1159_1163ins3

1 paper

NM_002425.3

p.E358Q

c.1072G>C

1 paper

NM_002425.3

p.N357S

c.1070A>G

1 paper

NM_002425.3

p.S414N

c.1241G>A

1 paper

NM_002425.3

p.L424R

c.1271T>G

1 paper

NM_002425.3

p.Y343H

c.1027T>C