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

1–12 of 204 variants

12 papers

NM_139057.4

p.P574Splc

c.1721+1G>A

11 papers

NM_139057.4

p.Q254*

c.760C>T

10 papers

NM_139057.4

p.E820insFs

c.2458dupG

9 papers

NM_139057.4

p.D218delFs

c.652delC

9 papers

NM_139057.4

p.P291_A292Splc

c.873+1G>T

9 papers

NM_139057.4

p.N1094S

c.3281A>G

8 papers

NM_139057.4

p.T343A

c.1027A>G

8 papers

NM_139057.4

p.E491_H492Splc

c.1473+1G>A

7 papers

NM_139057.4

p.K351*

c.1051A>T

7 papers

NM_139057.4

p.T446I

c.1337C>T

6 papers

NM_139057.4

p.D218fs

c.652_653fs

4 papers

NM_139057.4

p.G518S

c.1552G>A