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

3 papers

NM_147191.1

p.K342delFs

c.1024_1025delTT

Surrounding Variants

1 paper

NM_147191.1

p.K342fs

c.1024_1025fs

2 papers

NM_147191.1

p.K342fs

c.1024_1025fs

1 paper

NM_147191.1

p.Q346R

c.1037A>G

2 papers

NM_147191.1

p.E349G

c.1046A>G

1 paper

NM_147191.1

p.E349_V350delFs

c.1047_1050del4

1 paper

NM_147191.1

p.S328Y

c.983C>A

4 papers

NM_147191.1

p.R360C

c.1078C>T

1 paper

NM_147191.1

p.R360H

c.1079G>A

1 paper

NM_147191.1

p.G327Splc

c.980-16T>A

1 paper

NM_147191.1

p.Y367delFs

c.1099delA

1 paper

NM_147191.1

p.Y367fs

c.1099_1100fs

2 papers

NM_147191.1

p.R370*

c.1108C>T