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.L27P

c.80T>C

Surrounding Variants

1 paper

NM_016155.7

p.L25ins1

c.74_75insGCC

1 paper

NM_016155.7

p.P24L

c.71C>T

1 paper

NM_016155.7

p.A30V

c.89C>T

1 paper

NM_016155.7

p.P22ins1

c.65_66insGCT

4 papers

NM_016155.7

p.P22ins3

c.64_65ins9

1 paper

NM_016155.7

p.P22S

c.64C>T

1 paper

NM_016155.7

p.R20insFs

c.59_60ins8

5 papers

NM_016155.7

p.R20ins3

c.59_60ins9

1 paper

NM_016155.7

p.R20L

c.59G>T

1 paper

NM_016155.7

p.R20_L21insLPL

c.58_62ins9

1 paper

NM_016155.7

p.G36S

c.106G>A

1 paper

NM_016155.7

p.P40S

c.118C>T