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.N1004D

c.3010A>G

Surrounding Variants

1 paper

NM_001040272.6

p.S1006I

c.3017G>T

1 paper

NM_001040272.6

p.E1009*

c.3025G>T

1 paper

NM_001040272.6

p.H995R

c.2984A>G

1 paper

NM_001040272.6

p.A1014T

c.3040G>A

4 papers

NM_001040272.6

p.A1014V

c.3041C>T

1 paper

NM_001040272.6

p.N1016S

c.3047A>G

1 paper

NM_001040272.6

p.P1017A

c.3049C>G

4 papers

NM_001040272.6

p.E990A

c.2969A>C

1 paper

NM_001040272.6

p.G987S

c.2959G>A

1 paper

NM_001040272.6

p.V1025I

c.3073G>A

4 papers

NM_001040272.6

p.S1026F

c.3077C>T

1 paper

NM_001040272.6

p.R970Q

c.2909G>A