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.F554L

c.1660T>C

Surrounding Variants

1 paper

NM_006988.5

p.F554L

c.1662T>G

1 paper

NM_006988.5

p.F554L

c.1662T>A

1 paper

NM_006988.5

p.K548_D550del3

c.1642_1649del9

1 paper

NM_006988.5

p.T514A

c.1540A>G

1 paper

NM_006988.5

p.S507N

c.1520G>A

1 paper

NM_006988.5

p.P500P

c.1500C>T

1 paper

NM_006988.5

p.P500L

c.1499C>T

1 paper

NM_006988.5

p.R486Q

c.1457G>A

2 papers

NM_006988.5

p.T556M

c.1667C>T

1 paper

NM_006988.5

p.P474S

c.1420C>T

3 papers

NM_006988.5

p.P467A

c.1399C>G

1 paper

NM_006988.5

p.R573T

c.1718G>C