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

5 papers

NM_199355.4

p.T433N

c.1298C>A

NM_001326358.2

p.T261N

c.782C>A

Surrounding Variants

1 paper

NM_199355.4

p.N441Splc

c.1322+8C>G

1 paper

NM_199355.4

p.I422S

c.1265T>G

1 paper

NM_199355.4

p.R418*

c.1252C>T

2 papers

NM_199355.4

p.C414Y

c.1241G>A

1 paper

NM_199355.4

p.N399delFs

c.1196delT

1 paper

NM_199355.4

p.G391R

c.1171G>C

1 paper

NM_199355.4

p.G391R

c.1171G>A

1 paper

NM_199355.4

p.I387F

c.1159A>T

3 papers

NM_199355.4

p.R382K

c.1145G>A

1 paper

NM_199355.4

p.W371*

c.1113G>A

1 paper

NM_199355.4

p.W371*

c.1112G>A

3 papers

NM_199355.4

p.L356*

c.1067T>A