Varaico: Literature-Extracted Genetic Variants

ADAMTS16

175 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 61–152UCSCReprolysin family propeptide

Reprolysinaa 291–495UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 508–575UCSCADAMTS cysteine-rich domain 2

TSP_1aa 590–640UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 636–745UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 747–858UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 16

HGNC Alias Symbol

ADAMTS16s

Papers

RefSeq ID

Protein change

DNA change

1–12 of 225 variants

5 papers

NM_139056.4

p.V734I

c.2200G>A

4 papers

NM_139056.4

p.P90A

c.268C>G

4 papers

NM_139056.4

p.S104P

c.310T>C

4 papers

NM_139056.4

p.M110V

c.328A>G

4 papers

NM_139056.4

p.P211S

c.631C>T

4 papers

NM_139056.4

p.A685T

c.2053G>A

4 papers

NM_139056.4

p.R950C

c.2848C>T

3 papers

NM_139056.4

p.S162S

c.486A>T

3 papers

NM_139056.4

p.A486T

c.1456G>A

3 papers

NM_139056.4

p.R630C

c.1888C>T

3 papers

NM_139056.4

p.G945R

c.2833G>A

3 papers

NM_139056.4

p.G945R

c.2833G>C