Varaico: Literature-Extracted Genetic Variants

MMP25

58 papers

RefSeq Summary

Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue r...

Pfam Domains

PG_binding_1aa 25–85UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 114–280UCSCMatrixin

Hemopexinaa 321–365UCSCHemopexin

Hemopexinaa 370–412UCSCHemopexin

Hemopexinaa 416–462UCSCHemopexin

Hemopexinaa 464–508UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 25

HGNC Previous Symbol

MMPL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_022468.5

p.R104Q

c.311G>A

Surrounding Variants

1 paper

NM_022468.5

p.R104L

c.311G>T

3 papers

NM_022468.5

p.R105C

c.313C>T

1 paper

NM_022468.5

p.R106del1

c.316_317delCGC

1 paper

NM_022468.5

p.R106H

c.317G>A

1 paper

NM_022468.5

p.S91F

c.272C>T

1 paper

NM_022468.5

p.R118*

c.352C>T

1 paper

NM_022468.5

p.R89H

c.266G>A

1 paper

NM_022468.5

p.T84I

c.251C>T

1 paper

NM_022468.5

p.D78_P79insFs

c.234_235insAA

1 paper

NM_022468.5

p.V138L

c.412G>C

1 paper

NM_022468.5

p.V138L

c.412G>T

1 paper

NM_022468.5

p.R139Q

c.416G>A