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

3 papers

NM_007037.6

p.S49G

c.145A>G

Surrounding Variants

1 paper

NM_007037.6

p.L46_P47insCGC

c.136_140ins9

1 paper

NM_007037.6

p.R45_L46insTGA

c.133_137ins9

1 paper

NM_007037.6

p.S58F

c.173C>T

1 paper

NM_007037.6

p.G61_K62insTGC

c.181_185ins9

1 paper

NM_007037.6

p.G61_K62ins6

c.181_185ins18

1 paper

NM_007037.6

p.Q36*

c.106C>T

1 paper

NM_007037.6

p.G35delFs

c.105delC

1 paper

NM_007037.6

p.G35fs

c.103_104fs

3 papers

NM_007037.6

p.K62_F64del3

c.184_191del9

1 paper

NM_007037.6

p.D71G

c.212A>G

3 papers

NM_007037.6

p.L21_P22del2

c.61_65del6

5 papers

NM_007037.6

p.L21_P22del1

c.62_64delGCA