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

1 paper

NM_007037.6

p.V669L

c.2005G>T

Surrounding Variants

1 paper

NM_007037.6

p.V669L

c.2005G>C

1 paper

NM_007037.6

p.E634K

c.1900G>A

2 papers

NM_007037.6

p.R628*

c.1882C>T

1 paper

NM_007037.6

p.R622H

c.1865G>A

1 paper

NM_007037.6

p.R620Q

c.1859G>A

1 paper

NM_007037.6

p.K613K

c.1839G>A

1 paper

NM_007037.6

p.G605E

c.1814G>A

4 papers

NM_007037.6

p.G605R

c.1813G>C

4 papers

NM_007037.6

p.G605R

c.1813G>A

2 papers

NM_007037.6

p.Y703*

c.2109C>G

2 papers

NM_007037.6

p.Y703*

c.2109C>A

1 paper

NM_007037.6

p.T708T

c.2124C>T