Varaico: Literature-Extracted Genetic Variants

MMP16

110 papers

RefSeq Summary

Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue r...

Pfam Domains

PG_binding_1aa 38–96UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 126–291UCSCMatrixin

Hemopexinaa 347–390UCSCHemopexin

Hemopexinaa 392–436UCSCHemopexin

Hemopexinaa 439–485UCSCHemopexin

Hemopexinaa 487–532UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 16

HGNC Previous Symbol

C8orf57

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005941.5

p.S111T

c.331T>A

Surrounding Variants

1 paper

NM_005941.5

p.S110G

c.328A>G

1 paper

NM_005941.5

p.K112Q

c.334A>C

1 paper

NM_005941.5

p.R116C

c.346C>T

2 papers

NM_005941.5

p.V103I

c.307G>A

1 paper

NM_005941.5

p.R119L

c.356G>T

1 paper

NM_005941.5

p.G102S

c.304G>A

2 papers

NM_005941.5

p.R100Q

c.299G>A

1 paper

NM_005941.5

p.M96L

c.286A>T

1 paper

NM_005941.5

p.M96L

c.286A>C

2 papers

NM_005941.5

p.I132V

c.394A>G

1 paper

NM_005941.5

p.S135Splc

c.404+2T>A