Varaico: Literature-Extracted Genetic Variants

MMP24

47 papers

RefSeq Summary

This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological proces...

Pfam Domains

PG_binding_1aa 75–134UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 162–327UCSCMatrixin

Hemopexinaa 384–427UCSCHemopexin

Hemopexinaa 429–473UCSCHemopexin

Hemopexinaa 476–522UCSCHemopexin

Hemopexinaa 524–569UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 24

HGNC Alias Symbol

MT5-MMP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006690.4

p.Y90C

c.269A>G

Surrounding Variants

1 paper

NM_006690.4

p.F117L

c.349T>C

1 paper

NM_006690.4

p.F117L

c.351T>A

1 paper

NM_006690.4

p.F117L

c.351T>G

2 papers

NM_006690.4

p.G119R

c.355G>A

2 papers

NM_006690.4

p.G119R

c.355G>C

1 paper

NM_006690.4

p.W163*

c.488G>A

1 paper

NM_006690.4

p.W163*

c.489G>A

1 paper

NM_006690.4

p.Y170C

c.509A>G

1 paper

NM_006690.4

p.T176T

c.528C>A

1 paper

NM_006690.4

p.A187_I188delFs

c.559_562del4

1 paper

NM_006690.4

p.R189_Q190ins6

c.565_569ins18

1 paper

NM_006690.4

p.P234_F235insAA

c.700_704ins6