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

1–12 of 84 variants

10 papers

NM_002425.3

p.G65R

c.193G>A

9 papers

NM_002425.3

p.G65R

c.193G>C

6 papers

NM_002425.3

p.Y400*

c.1200C>A

5 papers

NM_002425.3

p.R53K

c.158G>A

5 papers

NM_002425.3

p.E166Splc

c.497-2A>G

5 papers

NM_002425.3

p.Y400*

c.1200C>G

3 papers

NM_002425.3

p.D199N

c.595G>A

2 papers

NM_002425.3

p.L4V

c.10C>G

2 papers

NM_002425.3

p.I63fs

c.187_188fs

2 papers

NM_002425.3

p.H112H

c.336C>T

2 papers

NM_002425.3

p.V129_D130insFs

c.387_388insA

2 papers

NM_002425.3

p.I387_D388insA

c.1159_1163ins3