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

10 papers

NM_139057.4

p.E820insFs

c.2458dupG

Surrounding Variants

4 papers

NM_139057.4

p.E820fs

c.2458_2459fs

1 paper

NM_139057.4

p.R821C

c.2461C>T

1 paper

NM_139057.4

p.R829W

c.2485C>T

2 papers

NM_139057.4

p.K833K

c.2499G>A

1 paper

NM_139057.4

p.E850insFs

c.2548_2549insG

1 paper

NM_139057.4

p.R864Q

c.2591G>A

1 paper

NM_139057.4

p.V784L

c.2350G>T

1 paper

NM_139057.4

p.V784L

c.2350G>C

1 paper

NM_139057.4

p.L764F

c.2292G>T

1 paper

NM_139057.4

p.L764F

c.2292G>C

1 paper

NM_139057.4

p.I752V

c.2254A>G

1 paper

NM_139057.4

p.K751delFs

c.2253delC