Varaico: Literature-Extracted Genetic Variants

ADAMTS1

152 papers

RefSeq Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a prope...

Pfam Domains

Pep_M12B_propepaa 51–130UCSCReprolysin family propeptide

Reprolysinaa 258–467UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 478–546UCSCADAMTS cysteine-rich domain 2

TSP_1aa 563–613UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 619–724UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 726–843UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 1

HGNC Alias Symbols

C3-C5; METH1; KIAA1346

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006988.5

p.C123W

c.369C>G

Surrounding Variants

2 papers

NM_006988.5

p.F124_Y125insFs

c.372_373insGT

1 paper

NM_006988.5

p.P116A

c.346C>G

1 paper

NM_006988.5

p.S135A

c.403T>G

1 paper

NM_006988.5

p.A136T

c.406G>A

2 papers

NM_006988.5

p.G110_S111ins9

c.330_331ins27

1 paper

NM_006988.5

p.G110A

c.329G>C

1 paper

NM_006988.5

p.A138S

c.412G>T

1 paper

NM_006988.5

p.K108I

c.323A>T

2 papers

NM_006988.5

p.A97_R107delFs

c.291_319del29

2 papers

NM_006988.5

p.L102F

c.304C>T

1 paper

NM_006988.5

p.D92N

c.274G>A

1 paper

NM_006988.5

p.E88Q

c.262G>C