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

1–12 of 97 variants

5 papers

NM_016155.7

p.R20ins3

c.59_60ins9

4 papers

NM_016155.7

p.P22ins3

c.64_65ins9

4 papers

NM_016155.7

p.F59_G60ins9

c.175_179ins27

3 papers

NM_016155.7

p.P64_A65ins9

c.190_194ins27

2 papers

NM_016155.7

p.L27P

c.80T>C

2 papers

NM_016155.7

p.L78M

c.232C>A

2 papers

NM_016155.7

p.A182T

c.544G>A

2 papers

NM_016155.7

p.Y269Y

c.807C>T

2 papers

NM_016155.7

p.R279H

c.836G>A

2 papers

NM_016155.7

p.R373H

c.1118G>A

2 papers

NM_016155.7

p.D529N

c.1585G>A

2 papers

NM_016155.7

p.A538T

c.1612G>A