Varaico: Literature-Extracted Genetic Variants

MMP3

447 papers

RefSeq Summary

Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue r...

Pfam Domains

PG_binding_1aa 27–87UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 108–264UCSCMatrixin

Hemopexinaa 296–338UCSCHemopexin

Hemopexinaa 340–383UCSCHemopexin

Hemopexinaa 388–435UCSCHemopexin

Hemopexinaa 437–477UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 3

HGNC Previous Symbols

STMY1; STMY

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

36 papers

NM_002422.5

p.K45E

c.133A>G

Surrounding Variants

2 papers

NM_002422.5

p.K45Q

c.133A>C

1 paper

NM_002422.5

p.L44L

c.132C>T

1 paper

NM_002422.5

p.D43D

c.129C>T

1 paper

NM_002422.5

p.D47N

c.139G>A

1 paper

NM_002422.5

p.Y42D

c.124T>G

1 paper

NM_002422.5

p.Y42H

c.124T>C

2 papers

NM_002422.5

p.K49I

c.146A>T

1 paper

NM_002422.5

p.F51F

c.153T>C

1 paper

NM_002422.5

p.V52I

c.154G>A

1 paper

NM_002422.5

p.Y37S

c.110A>C

1 paper

NM_002422.5

p.R53K

c.158G>A

1 paper

NM_002422.5

p.R54S

c.162A>T