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.A314G

c.941C>G

Surrounding Variants

1 paper

NM_007037.6

p.P308Q

c.923C>A

1 paper

NM_007037.6

p.R306H

c.917G>A

1 paper

NM_007037.6

p.P303H

c.908C>A

1 paper

NM_007037.6

p.P303S

c.907C>T

1 paper

NM_007037.6

p.R291H

c.872G>A

1 paper

NM_007037.6

p.L288F

c.862C>T

1 paper

NM_007037.6

p.G286V

c.857G>T

1 paper

NM_007037.6

p.K277E

c.829A>G

1 paper

NM_007037.6

p.L265P

c.794T>C

1 paper

NM_007037.6

p.N264S

c.791A>G

1 paper

NM_007037.6

p.K260R

c.779A>G

1 paper

NM_007037.6

p.Q325K

c.973C>A