Varaico: Literature-Extracted Genetic Variants

MMP21

81 papers

RefSeq Summary

This gene encodes a member of the matrix metalloproteinase family. Proteins in this family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryo...

Pfam Domains

PG_binding_1aa 48–112UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 170–327UCSCMatrixin

Hemopexinaa 352–391UCSCHemopexin

Hemopexinaa 400–449UCSCHemopexin

Hemopexinaa 451–496UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 21

HGNC Previous Name

matrix metalloproteinase 21

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_147191.1

p.M122delFs

c.365delA

Surrounding Variants

3 papers

NM_147191.1

p.M122fs

c.364_365fs

1 paper

NM_147191.1

p.C117*

c.351C>A

1 paper

NM_147191.1

p.R116fs

c.346_347fs

1 paper

NM_147191.1

p.A129A

c.387C>A

1 paper

NM_147191.1

p.P133H

c.398C>A

1 paper

NM_147191.1

p.P134L

c.401C>T

1 paper

NM_147191.1

p.A110V

c.329C>T

1 paper

NM_147191.1

p.P138insFs

c.414dupC

2 papers

NM_147191.1

p.R139fs

c.415_416fs

1 paper

NM_147191.1

p.P138delFs

c.414delG

1 paper

NM_147191.1

p.L104P

c.311T>C

3 papers

NM_147191.1

p.E103delFs

c.308_309delCT