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.Q1062_C1063Splc

c.3186+2T>C

Surrounding Variants

1 paper

NM_139056.4

p.C1042S

c.3125G>C

1 paper

NM_139056.4

p.C1042S

c.3124T>A

1 paper

NM_139056.4

p.A1041T

c.3121G>A

1 paper

NM_139056.4

p.E1040K

c.3118G>A

1 paper

NM_139056.4

p.S1032F

c.3095C>T

1 paper

NM_139056.4

p.C1030*

c.3090C>A

1 paper

NM_139056.4

p.A1028T

c.3082G>A

1 paper

NM_139056.4

p.A1022V

c.3065C>T

3 papers

NM_139056.4

p.R1009Q

c.3026G>A

2 papers

NM_139056.4

p.R1009W

c.3025C>T

1 paper

NM_139056.4

p.T1001I

c.3002C>T

1 paper

NM_139056.4

p.P964L

c.2891C>T