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

6 papers

NM_139057.4

p.D218fs

c.652_653fs

Surrounding Variants

9 papers

NM_139057.4

p.D218delFs

c.652delC

1 paper

NM_139057.4

p.W219L

c.656G>T

3 papers

NM_139057.4

p.S216L

c.647C>T

1 paper

NM_139057.4

p.R220R

c.660G>A

2 papers

NM_139057.4

p.N224insFs

c.670_671insAT

1 paper

NM_139057.4

p.A242T

c.724G>A

1 paper

NM_139057.4

p.G249R

c.745G>C

1 paper

NM_139057.4

p.G249R

c.745G>A

1 paper

NM_139057.4

p.A250A

c.750C>T

1 paper

NM_139057.4

p.A252A

c.756C>T

11 papers

NM_139057.4

p.Q254*

c.760C>T

2 papers

NM_139057.4

p.F256_N262delFs

c.767_786del20