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.L295L

c.885G>A

Surrounding Variants

1 paper

NM_139056.4

p.V298V

c.894C>T

1 paper

NM_139056.4

p.V292M

c.874G>A

1 paper

NM_139056.4

p.E289*

c.865G>T

1 paper

NM_139056.4

p.R286K

c.857G>A

2 papers

NM_139056.4

p.S284Y

c.851C>A

1 paper

NM_139056.4

p.R276W

c.826C>T

1 paper

NM_139056.4

p.V315V

c.945G>A

1 paper

NM_139056.4

p.C274R

c.820T>C

1 paper

NM_139056.4

p.Y271C

c.812A>G

1 paper

NM_139056.4

p.P268S

c.802C>T

1 paper

NM_139056.4

p.Q258H

c.774G>C

1 paper

NM_139056.4

p.Q258H

c.774G>T