Varaico: Literature-Extracted Genetic Variants

MMP28

39 papers

RefSeq Summary

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

Pfam Domains

PG_binding_1aa 29–86UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 129–284UCSCMatrixin

Hemopexinaa 328–371UCSCHemopexin

Hemopexinaa 375–416UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 28

HGNC Alias Symbols

MMP-25; MM28; EPILYSIN; MMP-28

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024302.5

p.D268D

c.804C>T

Surrounding Variants

1 paper

NM_024302.5

p.H244Q

c.732C>A

1 paper

NM_024302.5

p.G243A

c.728G>C

1 paper

NM_024302.5

p.L234_F235insAA

c.700_704ins6

1 paper

NM_024302.5

p.G297E

c.890G>A

1 paper

NM_024302.5

p.T305T

c.915C>T

1 paper

NM_024302.5

p.R314S

c.942G>T

1 paper

NM_024302.5

p.R314S

c.942G>C

1 paper

NM_024302.5

p.R315R

c.945C>A

1 paper

NM_024302.5

p.A377T

c.1129G>A

1 paper

NM_024302.5

p.P178L

c.533C>T

1 paper

NM_024302.5

p.F159Y

c.476T>A

1 paper

NM_024302.5

p.L146_P147insFs

c.438_439insG