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

1–12 of 253 variants

5 papers

NM_001040272.6

p.W42R

c.124T>A

5 papers

NM_001040272.6

p.W42R

c.124T>C

4 papers

NM_001040272.6

p.S242N

c.725G>A

4 papers

NM_001040272.6

p.E990A

c.2969A>C

4 papers

NM_001040272.6

p.A1014V

c.3041C>T

4 papers

NM_001040272.6

p.S1026F

c.3077C>T

4 papers

NM_001040272.6

p.D1409G

c.4226A>G

3 papers

NM_001040272.6

p.R59H

c.176G>A

3 papers

NM_001040272.6

p.H224D

c.670C>G

3 papers

NM_001040272.6

p.C392_G393insFs

c.1176_1177insG

3 papers

NM_001040272.6

p.G393delFs

c.1177delG

3 papers

NM_001040272.6

p.E444Q

c.1330G>C