Varaico: Literature-Extracted Genetic Variants

MMP27

55 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 26–86UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 105–261UCSCMatrixin

Hemopexinaa 285–327UCSCHemopexin

Hemopexinaa 329–371UCSCHemopexin

Hemopexinaa 376–422UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 27

HGNC Previous Name

matrix metalloproteinase 27

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022122.3

p.T102T

c.306C>G

Surrounding Variants

1 paper

NM_022122.3

p.Y99H

c.295T>C

1 paper

NM_022122.3

p.P89_R90insFs

c.267_268ins20

1 paper

NM_022122.3

p.K87N

c.261G>T

1 paper

NM_022122.3

p.K87N

c.261G>C

1 paper

NM_022122.3

p.L83I

c.247C>A

1 paper

NM_022122.3

p.N81insFs

c.241_242ins20

1 paper

NM_022122.3

p.L78_D79insFs

c.234_235insAA

1 paper

NM_022122.3

p.G71*

c.211G>T

2 papers

NM_022122.3

p.M30V

c.88A>G

1 paper

NM_022122.3

p.E25K

c.73G>A

5 papers

NM_022122.3

p.R22W

c.64C>T

1 paper

NM_022122.3

p.A17E

c.50C>A