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.E836G

c.2507A>G

Surrounding Variants

1 paper

NM_139056.4

p.P833T

c.2497C>A

1 paper

NM_139056.4

p.I839I

c.2517T>A

1 paper

NM_139056.4

p.S821S

c.2463C>T

1 paper

NM_139056.4

p.R820Q

c.2459G>A

1 paper

NM_139056.4

p.R820P

c.2459G>C

1 paper

NM_139056.4

p.R820W

c.2458C>T

1 paper

NM_139056.4

p.Y809C

c.2426A>G

1 paper

NM_139056.4

p.R808W

c.2422C>T

1 paper

NM_139056.4

p.V803M

c.2407G>A

1 paper

NM_139056.4

p.T802T

c.2406C>T

1 paper

NM_139056.4

p.R789C

c.2365C>T

1 paper

NM_139056.4

p.S787Y

c.2360C>A