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.P273P

c.819G>A

Surrounding Variants

2 papers

NM_016155.7

p.Y269Y

c.807C>T

2 papers

NM_016155.7

p.R279H

c.836G>A

1 paper

NM_016155.7

p.R289C

c.865C>T

1 paper

NM_016155.7

p.A253T

c.757G>A

1 paper

NM_016155.7

p.G295S

c.883G>A

1 paper

NM_016155.7

p.E249A

c.746A>C

1 paper

NM_016155.7

p.D236Splc

c.707-1G>T

1 paper

NM_016155.7

p.S234_S235insAA

c.700_704ins6

1 paper

NM_016155.7

p.A210T

c.628G>A

1 paper

NM_016155.7

p.G205S

c.613G>A

1 paper

NM_016155.7

p.G202S

c.604G>A

1 paper

NM_016155.7

p.N195N

c.585C>T