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.D707H

c.2119G>C

Surrounding Variants

1 paper

NM_139056.4

p.R709H

c.2126G>A

1 paper

NM_139056.4

p.T702T

c.2106T>G

1 paper

NM_139056.4

p.G715E

c.2144G>A

4 papers

NM_139056.4

p.A685T

c.2053G>A

1 paper

NM_139056.4

p.C683*

c.2049T>A

1 paper

NM_139056.4

p.C679*

c.2037C>A

1 paper

NM_139056.4

p.Q676R

c.2027A>G

1 paper

NM_139056.4

p.F660I

c.1978T>A

1 paper

NM_139056.4

p.H655R

c.1964A>G

1 paper

NM_139056.4

p.A649D

c.1946C>A

1 paper

NM_139056.4

p.R648H

c.1943G>A

1 paper

NM_139056.4

p.N636D

c.1906A>G