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.A235P

c.703G>C

Surrounding Variants

1 paper

NM_006988.5

p.A235S

c.703G>T

1 paper

NM_006988.5

p.Q232*

c.694C>T

1 paper

NM_006988.5

p.S230L

c.689C>T

1 paper

NM_006988.5

p.G240G

c.720A>G

1 paper

NM_006988.5

p.G240_P242delFs

c.718_724del7

5 papers

NM_006988.5

p.A227P

c.679G>C

1 paper

NM_006988.5

p.G226_A227delins

c.676_679delinsAGGC

1 paper

NM_006988.5

p.T220T

c.660T>A

1 paper

NM_006988.5

p.D217H

c.649G>C

1 paper

NM_006988.5

p.D215N

c.643G>A

1 paper

NM_006988.5

p.G209_K210delFs

c.627_628delTC

1 paper

NM_006988.5

p.K210fs

c.628_629fs