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

4 papers

NM_007037.6

p.A145G

c.434C>G

Surrounding Variants

1 paper

NM_007037.6

p.Q146*

c.436C>T

1 paper

NM_007037.6

p.S143fs

c.427_428fs

1 paper

NM_007037.6

p.R149H

c.446G>A

1 paper

NM_007037.6

p.E132K

c.394G>A

1 paper

NM_007037.6

p.G172R

c.514G>C

1 paper

NM_007037.6

p.G172R

c.514G>A

1 paper

NM_007037.6

p.E111E

c.333G>A

1 paper

NM_007037.6

p.N107S

c.320A>G

1 paper

NM_007037.6

p.F102L

c.306C>G

1 paper

NM_007037.6

p.S190I

c.569G>T

1 paper

NM_007037.6

p.E194Q

c.580G>C

1 paper

NM_007037.6

p.S87A

c.259T>G