Varaico: Literature-Extracted Genetic Variants

MMP17

95 papers

RefSeq Summary

This gene encodes a member of the peptidase M10 family and membrane-type subfamily of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in...

Pfam Domains

PG_binding_1aa 45–105UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 132–295UCSCMatrixin

Hemopexinaa 336–379UCSCHemopexin

Hemopexinaa 385–428UCSCHemopexin

Hemopexinaa 431–477UCSCHemopexin

Hemopexinaa 479–523UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 17

HGNC Alias Symbol

MT4-MMP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_016155.7

p.A538T

c.1612G>A

Surrounding Variants

1 paper

NM_016155.7

p.E540A

c.1619A>C

1 paper

NM_016155.7

p.E540D

c.1620G>C

1 paper

NM_016155.7

p.E540D

c.1620G>T

1 paper

NM_016155.7

p.A534V

c.1601C>T

2 papers

NM_016155.7

p.D529N

c.1585G>A

1 paper

NM_016155.7

p.A528_G530insFs

c.1584_1590dup7

1 paper

NM_016155.7

p.R518Q

c.1553G>A

1 paper

NM_016155.7

p.V560I

c.1678G>A

1 paper

NM_016155.7

p.Y512fs

c.1534_1535fs

1 paper

NM_016155.7

p.Y512delFs

c.1534delT

1 paper

NM_016155.7

p.A573G

c.1718C>G

1 paper

NM_016155.7

p.M582_L583del2

c.1744_1748del6