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.V797I

c.2389G>A

Surrounding Variants

1 paper

NM_006988.5

p.V797A

c.2390T>C

1 paper

NM_006988.5

p.G796V

c.2387G>T

1 paper

NM_006988.5

p.M793L

c.2377A>T

1 paper

NM_006988.5

p.M793L

c.2377A>C

1 paper

NM_006988.5

p.I792_Y801delFs

c.2376_2401del26

1 paper

NM_006988.5

p.A806V

c.2417C>T

1 paper

NM_006988.5

p.S786P

c.2356T>C

1 paper

NM_006988.5

p.L785F

c.2355G>T

1 paper

NM_006988.5

p.L785F

c.2355G>C

1 paper

NM_006988.5

p.T784A

c.2350A>G

2 papers

NM_006988.5

p.D782G

c.2345A>G

1 paper

NM_006988.5

p.R812C

c.2434C>T