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.M816L

c.2446A>T

Surrounding Variants

1 paper

NM_007037.6

p.M816L

c.2446A>C

1 paper

NM_007037.6

p.T825_N826delFs

c.2473_2476del4

1 paper

NM_007037.6

p.W836G

c.2506T>G

2 papers

NM_007037.6

p.T792A

c.2374A>G

1 paper

NM_007037.6

p.Q789*

c.2365C>T

1 paper

NM_007037.6

p.C848C

c.2544C>T

1 paper

NM_007037.6

p.G849R

c.2545G>C

1 paper

NM_007037.6

p.G849R

c.2545G>A

1 paper

NM_007037.6

p.G851S

c.2551G>A

1 paper

NM_007037.6

p.Q777*

c.2329C>T

1 paper

NM_007037.6

p.R855Q

c.2564G>A

1 paper

NM_007037.6

p.L773insFs

c.2318dupT