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

2 papers

NM_006988.5

p.T556M

c.1667C>T

Surrounding Variants

1 paper

NM_006988.5

p.R573T

c.1718G>C

1 paper

NM_006988.5

p.G576S

c.1726G>A

1 paper

NM_006988.5

p.P589R

c.1766C>G

1 paper

NM_006988.5

p.V590A

c.1769T>C

1 paper

NM_006988.5

p.G594A

c.1781G>C

1 paper

NM_006988.5

p.G594E

c.1781G>A

1 paper

NM_006988.5

p.G595delFs

c.1783_1784delCC

1 paper

NM_006988.5

p.Y597H

c.1789T>C

1 paper

NM_006988.5

p.R602*

c.1804C>T

1 paper

NM_006988.5

p.R604C

c.1810C>T

2 papers

NM_006988.5

p.R604H

c.1811G>A

1 paper

NM_006988.5

p.R606S

c.1818A>T