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.V194V

c.582C>A

Surrounding Variants

1 paper

NM_006988.5

p.C198C

c.594C>T

1 paper

NM_006988.5

p.V200V

c.600C>G

1 paper

NM_006988.5

p.R187W

c.559C>T

1 paper

NM_006988.5

p.D203E

c.609C>G

1 paper

NM_006988.5

p.D203E

c.609C>A

1 paper

NM_006988.5

p.E204*

c.610G>T

1 paper

NM_006988.5

p.F183_H184del1

c.548_550delGGA

1 paper

NM_006988.5

p.T208T

c.624T>A

1 paper

NM_006988.5

p.K210fs

c.628_629fs

1 paper

NM_006988.5

p.A179_P180insP

c.535_539ins3

1 paper

NM_006988.5

p.G209_K210delFs

c.627_628delTC

1 paper

NM_006988.5

p.P178P

c.534G>A