Varaico: Literature-Extracted Genetic Variants

ADAMTS8

115 papers

RefSeq Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a prop...

Pfam Domains

Pep_M12B_propepaa 33–107UCSCReprolysin family propeptide

Reprolysinaa 219–429UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 440–513UCSCADAMTS cysteine-rich domain 2

TSP_1aa 530–580UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 585–689UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 691–809UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 8

HGNC Alias Symbols

METH2; FLJ41712; ADAM-TS8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_007037.6

p.A525V

c.1574C>T

Surrounding Variants

1 paper

NM_007037.6

p.G527E

c.1580G>A

1 paper

NM_007037.6

p.E537K

c.1609G>A

1 paper

NM_007037.6

p.C538R

c.1612T>C

1 paper

NM_007037.6

p.G544*

c.1630G>T

1 paper

NM_007037.6

p.R551H

c.1652G>A

1 paper

NM_007037.6

p.G561E

c.1682G>A

1 paper

NM_007037.6

p.G562fs

c.1684_1685fs

1 paper

NM_007037.6

p.G562delFs

c.1685delC

1 paper

NM_007037.6

p.Y572*

c.1716C>G

1 paper

NM_007037.6

p.Y572*

c.1716C>A

1 paper

NM_007037.6

p.T577M

c.1730C>T

1 paper

NM_007037.6

p.T577T

c.1731G>T