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

6 papers

NM_006988.5

p.R703H

c.2108G>A

Surrounding Variants

1 paper

NM_006988.5

p.V697I

c.2089G>A

2 papers

NM_006988.5

p.V690L

c.2068G>C

1 paper

NM_006988.5

p.S687insFs

c.2059_2060insG

1 paper

NM_006988.5

p.G718_C724del7

c.2152_2171del21

1 paper

NM_006988.5

p.I727delFs

c.2179delT

2 papers

NM_006988.5

p.T732I

c.2195C>T

1 paper

NM_006988.5

p.D740N

c.2218G>A

1 paper

NM_006988.5

p.I742T

c.2225T>C

1 paper

NM_006988.5

p.P745Q

c.2234C>A

2 papers

NM_006988.5

p.R756Q

c.2267G>A

1 paper

NM_006988.5

p.G760delFs

c.2279delC

1 paper

NM_006988.5

p.A772P

c.2314G>C