Varaico: Literature-Extracted Genetic Variants

ADAMTSL1

186 papers

RefSeq Summary

This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like doma...

Pfam Domains

TSP_1aa 37–81UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 86–185UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 187–296UCSCADAM-TS Spacer 1

TSP1_ADAMTSaa 301–359UCSCThrombospondin type 1 domain

TSP1_ADAMTSaa 380–437UCSCThrombospondin type 1 domain

TSP1_ADAMTSaa 440–492UCSCThrombospondin type 1 domain

Gene Aliases

HGNC Name

ADAMTS like 1

HGNC Previous Symbol

C9orf94

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001040272.6

p.G884R

c.2650G>A

Surrounding Variants

1 paper

NM_001040272.6

p.V882A

c.2645T>C

1 paper

NM_001040272.6

p.P891S

c.2671C>T

3 papers

NM_001040272.6

p.T893M

c.2678C>T

1 paper

NM_001040272.6

p.R874P

c.2621G>C

1 paper

NM_001040272.6

p.A894V

c.2681C>T

1 paper

NM_001040272.6

p.P861L

c.2582C>T

1 paper

NM_001040272.6

p.H859Q

c.2577C>A

1 paper

NM_001040272.6

p.H859Q

c.2577C>G

1 paper

NM_001040272.6

p.I909N

c.2726T>A

1 paper

NM_001040272.6

p.T922T

c.2766G>A

1 paper

NM_001040272.6

p.V924I

c.2770G>A

1 paper

NM_001040272.6

p.K933Q

c.2797A>C