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.S162S

c.486A>T

Surrounding Variants

1 paper

NM_139056.4

p.H154P

c.461A>C

1 paper

NM_139056.4

p.R152Q

c.455G>A

1 paper

NM_139056.4

p.E142*

c.424G>T

1 paper

NM_139056.4

p.P141T

c.421C>A

1 paper

NM_139056.4

p.S135F

c.404C>T

1 paper

NM_139056.4

p.L128delFs

c.383delT

1 paper

NM_139056.4

p.L112L

c.336G>C

1 paper

NM_139056.4

p.L112V

c.334C>G

4 papers

NM_139056.4

p.M110V

c.328A>G

1 paper

NM_139056.4

p.H109R

c.326A>G

4 papers

NM_139056.4

p.S104P

c.310T>C

1 paper

NM_139056.4

p.G103D

c.308G>A