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.F493L

c.1477T>C

Surrounding Variants

1 paper

NM_147191.1

p.Q499*

c.1495C>T

3 papers

NM_147191.1

p.K487E

c.1459A>G

1 paper

NM_147191.1

p.Y515C

c.1544A>G

1 paper

NM_147191.1

p.G523delFs

c.1568delC

4 papers

NM_147191.1

p.V530fs

c.1588_1589fs

4 papers

NM_147191.1

p.V529_V530insFs

c.1585_1588dup4

1 paper

NM_147191.1

p.S553L

c.1658C>T

1 paper

NM_147191.1

p.E554_K555delFs

c.1662_1663delTC

1 paper

NM_147191.1

p.K555fs

c.1663_1664fs

1 paper

NM_147191.1

p.V559F

c.1675G>T

1 paper

NM_147191.1

p.L470_V471Splc

c.1410+2T>A

3 papers

NM_147191.1

p.Q460_K461delFs

c.1380_1381delTC