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

7 papers

NM_147191.1

p.R458*

c.1372C>T

Surrounding Variants

4 papers

NM_147191.1

p.K461fs

c.1381_1382fs

3 papers

NM_147191.1

p.Q460_K461delFs

c.1380_1381delTC

1 paper

NM_147191.1

p.A454V

c.1361C>T

3 papers

NM_147191.1

p.T453M

c.1358C>T

1 paper

NM_147191.1

p.T453K

c.1358C>A

1 paper

NM_147191.1

p.L470_V471Splc

c.1410+2T>A

1 paper

NM_147191.1

p.S435_K438insFs

c.1304_1314dup11

1 paper

NM_147191.1

p.D430Y

c.1288G>T

3 papers

NM_147191.1

p.K487E

c.1459A>G

1 paper

NM_147191.1

p.F493L

c.1477T>C

1 paper

NM_147191.1

p.Q499*

c.1495C>T

1 paper

NM_147191.1

p.Y515C

c.1544A>G