Varaico: Literature-Extracted Genetic Variants

ADAMTS18

235 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 62–150UCSCReprolysin family propeptide

Reprolysinaa 294–498UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 511–578UCSCADAMTS cysteine-rich domain 2

TSP_1aa 593–643UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 646–748UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 750–861UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 18

HGNC Previous Symbol

ADAMTS21

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_199355.4

p.R247S

c.741G>T

Surrounding Variants

1 paper

NM_199355.4

p.R247S

c.741G>C

1 paper

NM_199355.4

p.R246Q

c.737G>A

1 paper

NM_199355.4

p.R246*

c.736C>T

2 papers

NM_199355.4

p.K250K

c.750G>A

1 paper

NM_199355.4

p.C254R

c.760T>C

1 paper

NM_199355.4

p.R256*

c.766C>T

1 paper

NM_199355.4

p.R256L

c.767G>T

1 paper

NM_199355.4

p.R256Q

c.767G>A

1 paper

NM_199355.4

p.P233H

c.698C>A

1 paper

NM_199355.4

p.R222W

c.664C>T

1 paper

NM_199355.4

p.S220F

c.659C>T

1 paper

NM_199355.4

p.Y214_G219insFs

c.640_656dup17