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

4 papers

NM_199355.4

p.Q33*

c.97C>T

Surrounding Variants

1 paper

NM_199355.4

p.C36delFs

c.108delG

1 paper

NM_199355.4

p.C38Y

c.113G>A

1 paper

NM_199355.4

p.A40V

c.119C>T

1 paper

NM_199355.4

p.A47A

c.141C>G

1 paper

NM_199355.4

p.G26G

c.78G>A

1 paper

NM_199355.4

p.G21_G24del4

c.61_71del12

1 paper

NM_199355.4

p.G24R

c.70G>C

1 paper

NM_199355.4

p.G24R

c.70G>A

1 paper

NM_199355.4

p.R20R

c.58A>C

1 paper

NM_199355.4

p.P18S

c.52C>T

1 paper

NM_199355.4

p.A14T

c.40G>A

2 papers

NM_199355.4

p.P12R

c.35C>G