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

1 paper

NM_016155.7

p.G205S

c.613G>A

Surrounding Variants

1 paper

NM_016155.7

p.G202S

c.604G>A

1 paper

NM_016155.7

p.A210T

c.628G>A

1 paper

NM_016155.7

p.N195N

c.585C>T

1 paper

NM_016155.7

p.H194_N195delFs

c.582_583delTA

1 paper

NM_016155.7

p.S190C

c.569C>G

1 paper

NM_016155.7

p.S190F

c.569C>T

2 papers

NM_016155.7

p.A182T

c.544G>A

1 paper

NM_016155.7

p.H176Q

c.528C>A

1 paper

NM_016155.7

p.S234_S235insAA

c.700_704ins6

1 paper

NM_016155.7

p.S168R

c.504C>A

1 paper

NM_016155.7

p.S168R

c.504C>G

1 paper

NM_016155.7

p.S168R

c.502A>C