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.P12L

c.35C>T

Surrounding Variants

3 papers

NM_007037.6

p.A7_P8delFs

c.21_22delGG

1 paper

NM_007037.6

p.L15_L16ins1

c.45_46insTGA

1 paper

NM_007037.6

p.L16ins1

c.46_47insCGC

1 paper

NM_007037.6

p.L21ins1

c.61_62insTGC

1 paper

NM_007037.6

p.L21ins2

c.61_62ins6

1 paper

NM_007037.6

p.L21P

c.62T>C

5 papers

NM_007037.6

p.L21_P22del1

c.62_64delGCA

1 paper

NM_007037.6

p.M1I

c.3G>T

1 paper

NM_007037.6

p.M1I

c.3G>C

1 paper

NM_007037.6

p.M1I

c.3G>A

3 papers

NM_007037.6

p.L21_P22del2

c.61_65del6

1 paper

NM_007037.6

p.G35fs

c.103_104fs