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.H79Q

c.237C>G

Surrounding Variants

1 paper

NM_006988.5

p.R77C

c.229C>T

1 paper

NM_006988.5

p.E88Q

c.262G>C

2 papers

NM_006988.5

p.E88K

c.262G>A

1 paper

NM_006988.5

p.G70G

c.210A>G

1 paper

NM_006988.5

p.G70R

c.208G>C

1 paper

NM_006988.5

p.G70R

c.208G>A

1 paper

NM_006988.5

p.D92N

c.274G>A

1 paper

NM_006988.5

p.P63L

c.188C>T

2 papers

NM_006988.5

p.L102F

c.304C>T

1 paper

NM_006988.5

p.R52_E56del0

c.155_166del12

1 paper

NM_006988.5

p.E55E

c.165G>A

1 paper

NM_006988.5

p.P53R

c.158C>G