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.C392_G393insFs

c.1176_1177insGG

Surrounding Variants

3 papers

NM_001040272.6

p.C392_G393insFs

c.1176_1177insG

3 papers

NM_001040272.6

p.G393delFs

c.1177delG

1 paper

NM_001040272.6

p.G393V

c.1178G>T

2 papers

NM_001040272.6

p.C392fs

c.1174_1175fs

2 papers

NM_001040272.6

p.S391L

c.1172C>T

1 paper

NM_001040272.6

p.S391A

c.1171T>G

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.I396fs

c.1186_1187fs

1 paper

NM_001040272.6

p.S398G

c.1192A>G

1 paper

NM_001040272.6

p.S398N

c.1193G>A

1 paper

NM_001040272.6

p.C403S

c.1207T>A