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.G388S

c.1162G>A

Surrounding Variants

1 paper

NM_139056.4

p.D381fs

c.1141_1142fs

1 paper

NM_139056.4

p.D381delFs

c.1141delG

1 paper

NM_139056.4

p.M373T

c.1118T>C

1 paper

NM_139056.4

p.C366Y

c.1097G>A

2 papers

NM_139056.4

p.H357Q

c.1071C>A

2 papers

NM_139056.4

p.H357Q

c.1071C>G

1 paper

NM_139056.4

p.P406L

c.1217C>T

1 paper

NM_139056.4

p.R415C

c.1243C>T

1 paper

NM_139056.4

p.F429F

c.1287C>T

1 paper

NM_139056.4

p.E434A

c.1301A>C

1 paper

NM_139056.4

p.G332A

c.995G>C

1 paper

NM_139056.4

p.V315V

c.945G>A