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

6 papers

NM_147191.1

p.S34L

c.101C>T

Surrounding Variants

4 papers

NM_147191.1

p.R31W

c.91C>T

1 paper

NM_147191.1

p.S26R

c.78T>G

1 paper

NM_147191.1

p.S26R

c.78T>A

1 paper

NM_147191.1

p.S26R

c.76A>C

1 paper

NM_147191.1

p.Q54H

c.162G>T

1 paper

NM_147191.1

p.Q54H

c.162G>C

1 paper

NM_147191.1

p.M1insFs

c.2dupT

3 papers

NM_147191.1

p.M1V

c.1A>G

6 papers

NM_147191.1

p.R55W

c.163C>T

1 paper

NM_147191.1

p.W62delFs

c.186delC

1 paper

NM_147191.1

p.E78_T79insFs

c.234_235insAA

1 paper

NM_147191.1

p.K81fs

c.241_242fs