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

3 papers

NM_139056.4

p.G945R

c.2833G>C

Surrounding Variants

3 papers

NM_139056.4

p.G945R

c.2833G>A

1 paper

NM_139056.4

p.A947_Q948delFs

c.2840_2844del5

1 paper

NM_139056.4

p.A947fs

c.2839_2840fs

1 paper

NM_139056.4

p.R941Q

c.2822G>A

4 papers

NM_139056.4

p.R950C

c.2848C>T

1 paper

NM_139056.4

p.R950H

c.2849G>A

1 paper

NM_139056.4

p.D961H

c.2881G>C

1 paper

NM_139056.4

p.P964L

c.2891C>T

1 paper

NM_139056.4

p.T1001I

c.3002C>T

2 papers

NM_139056.4

p.R1009W

c.3025C>T

3 papers

NM_139056.4

p.R1009Q

c.3026G>A

1 paper

NM_139056.4

p.A1022V

c.3065C>T