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.D237Y

c.709G>T

Surrounding Variants

1 paper

NM_139056.4

p.L238delFs

c.714delT

1 paper

NM_139056.4

p.S235I

c.704G>T

1 paper

NM_139056.4

p.R239C

c.715C>T

1 paper

NM_139056.4

p.H247R

c.740A>G

4 papers

NM_139056.4

p.P211S

c.631C>T

1 paper

NM_139056.4

p.H202N

c.604C>A

1 paper

NM_139056.4

p.G192D

c.575G>A

1 paper

NM_139056.4

p.G192S

c.574G>A

1 paper

NM_139056.4

p.L183V

c.547C>G

1 paper

NM_139056.4

p.Q258H

c.774G>C

1 paper

NM_139056.4

p.Q258H

c.774G>T

1 paper

NM_139056.4

p.P268S

c.802C>T