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.D733H

c.2197G>C

Surrounding Variants

5 papers

NM_139056.4

p.V734I

c.2200G>A

1 paper

NM_139056.4

p.V731V

c.2193T>G

1 paper

NM_139056.4

p.C735R

c.2203T>C

1 paper

NM_139056.4

p.S728P

c.2182T>C

1 paper

NM_139056.4

p.S743T

c.2227T>A

1 paper

NM_139056.4

p.S743P

c.2227T>C

1 paper

NM_139056.4

p.S743L

c.2228C>T

1 paper

NM_139056.4

p.T746M

c.2237C>T

1 paper

NM_139056.4

p.R749M

c.2246G>T

2 papers

NM_139056.4

p.H756Y

c.2266C>T

1 paper

NM_139056.4

p.Q760Splc

c.2279-3T>A

1 paper

NM_139056.4

p.T766T

c.2298C>A