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

1 paper

NM_147191.1

p.E183K

c.547G>A

Surrounding Variants

2 papers

NM_147191.1

p.A184V

c.551C>T

4 papers

NM_147191.1

p.S186I

c.557G>T

1 paper

NM_147191.1

p.S186S

c.558C>T

1 paper

NM_147191.1

p.S186delins

c.557_558delinsTT

1 paper

NM_147191.1

p.L176R

c.527T>G

2 papers

NM_147191.1

p.V191A

c.572T>C

1 paper

NM_147191.1

p.R196delFs

c.586delG

1 paper

NM_147191.1

p.R196fs

c.586_587fs

3 papers

NM_147191.1

p.G166*

c.496G>T

1 paper

NM_147191.1

p.Q158*

c.472C>T

1 paper

NM_147191.1

p.T209M

c.626C>T

1 paper

NM_147191.1

p.R155W

c.463C>T