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

1–12 of 113 variants

7 papers

NM_147191.1

p.W401*

c.1202G>A

7 papers

NM_147191.1

p.W401*

c.1203G>A

7 papers

NM_147191.1

p.R458*

c.1372C>T

6 papers

NM_147191.1

p.S34L

c.101C>T

6 papers

NM_147191.1

p.R55W

c.163C>T

5 papers

NM_147191.1

p.R94P

c.281G>C

5 papers

NM_147191.1

p.M122delFs

c.365delA

5 papers

NM_147191.1

p.I226T

c.677T>C

5 papers

NM_147191.1

p.A321P

c.961G>C

4 papers

NM_147191.1

p.R31W

c.91C>T

4 papers

NM_147191.1

p.S186I

c.557G>T

4 papers

NM_147191.1

p.E215K

c.643G>A