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

1 paper

NM_139057.4

p.S534R

c.1600A>C

Surrounding Variants

1 paper

NM_139057.4

p.S534R

c.1602C>G

1 paper

NM_139057.4

p.S534R

c.1602C>A

1 paper

NM_139057.4

p.A529_I538del10

c.1585_1613del30

2 papers

NM_139057.4

p.D543G

c.1628A>G

2 papers

NM_139057.4

p.G544R

c.1630G>C

2 papers

NM_139057.4

p.G544R

c.1630G>A

1 paper

NM_139057.4

p.D545A

c.1634A>C

2 papers

NM_139057.4

p.R557*

c.1669C>T

1 paper

NM_139057.4

p.T561A

c.1681A>G

2 papers

NM_139057.4

p.R564H

c.1691G>A

2 papers

NM_139057.4

p.N572K

c.1716C>G

1 paper

NM_139057.4

p.N572K

c.1716C>A