Varaico: Literature-Extracted Genetic Variants

MMP14

192 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 36–88UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 118–284UCSCMatrixin

Hemopexinaa 323–366UCSCHemopexin

Hemopexinaa 368–412UCSCHemopexin

Hemopexinaa 415–461UCSCHemopexin

Hemopexinaa 465–510UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 14

HGNC Alias Symbol

MT1-MMP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004995.4

p.L74S

c.221T>C

Surrounding Variants

1 paper

NM_004995.4

p.T77S

c.229A>T

1 paper

NM_004995.4

p.G78_K79insFs

c.234_235insAA

1 paper

NM_004995.4

p.A63G

c.188C>G

1 paper

NM_004995.4

p.Q59K

c.175C>A

3 papers

NM_004995.4

p.Q55H

c.165G>T

1 paper

NM_004995.4

p.G48R

c.142G>A

1 paper

NM_004995.4

p.G48R

c.142G>C

1 paper

NM_004995.4

p.A87A

c.261C>T

1 paper

NM_004995.4

p.P91H

c.272C>A

1 paper

NM_004995.4

p.P96S

c.286C>T

1 paper

NM_004995.4

p.K98M

c.293A>T

1 paper

NM_004995.4

p.G100R

c.298G>A