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

Selected Variant

1 paper

NM_139056.4

p.G464R

c.1390G>A

Surrounding Variants

1 paper

NM_139056.4

p.G464R

c.1390G>C

1 paper

NM_139056.4

p.R465C

c.1393C>T

1 paper

NM_139056.4

p.C450C

c.1350C>T

1 paper

NM_139056.4

p.E446Q

c.1336G>C

1 paper

NM_139056.4

p.D444A

c.1331A>C

1 paper

NM_139056.4

p.S484I

c.1451G>T

1 paper

NM_139056.4

p.N438Splc

c.1314-2A>T

1 paper

NM_139056.4

p.E434A

c.1301A>C

1 paper

NM_139056.4

p.F429F

c.1287C>T

1 paper

NM_139056.4

p.R415C

c.1243C>T

1 paper

NM_139056.4

p.P406L

c.1217C>T

3 papers

NM_139056.4

p.A486T

c.1456G>A