Varaico: Literature-Extracted Genetic Variants

ADAMTS17

179 papers

RefSeq Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a prop...

Pfam Domains

Pep_M12B_propepaa 36–132UCSCReprolysin family propeptide

Reprolysinaa 337–452UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 466–533UCSCADAMTS cysteine-rich domain 2

TSP_1aa 547–597UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 618–699UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 706–783UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 17

HGNC Alias Symbols

FLJ32769; FLJ16363

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_139057.4

p.T343A

c.1027A>G

Surrounding Variants

1 paper

NM_139057.4

p.A339V

c.1016C>T

1 paper

NM_139057.4

p.R319*

c.955C>T

1 paper

NM_139057.4

p.E313K

c.937G>A

1 paper

NM_139057.4

p.H309Y

c.925C>T

9 papers

NM_139057.4

p.P291_A292Splc

c.873+1G>T

1 paper

NM_139057.4

p.R290C

c.868C>T

1 paper

NM_139057.4

p.R288*

c.862C>T

1 paper

NM_139057.4

p.V285A

c.854T>C

1 paper

NM_139057.4

p.G274E

c.821G>A

1 paper

NM_139057.4

p.G274W

c.820G>T

1 paper

NM_139057.4

p.N266S

c.797A>G

1 paper

NM_139057.4

p.F347L

c.1041C>G