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.C403S

c.1208G>C

Surrounding Variants

1 paper

NM_001040272.6

p.C403S

c.1207T>A

1 paper

NM_001040272.6

p.V404A

c.1211T>C

1 paper

NM_001040272.6

p.S398N

c.1193G>A

1 paper

NM_001040272.6

p.S398G

c.1192A>G

1 paper

NM_001040272.6

p.Q409H

c.1227G>C

1 paper

NM_001040272.6

p.Q409H

c.1227G>T

1 paper

NM_001040272.6

p.I396fs

c.1186_1187fs

1 paper

NM_001040272.6

p.H411N

c.1231C>A

1 paper

NM_001040272.6

p.G395fs

c.1183_1184fs

1 paper

NM_001040272.6

p.G395fs

c.1183_1184fs

1 paper

NM_001040272.6

p.V412delFs

c.1234delG

1 paper

NM_001040272.6

p.V412A

c.1235T>C