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.T1118M

c.3353C>T

Surrounding Variants

1 paper

NM_001040272.6

p.R1125H

c.3374G>A

1 paper

NM_001040272.6

p.K1136R

c.3407A>G

1 paper

NM_001040272.6

p.F1141V

c.3421T>G

1 paper

NM_001040272.6

p.R1093H

c.3278G>A

1 paper

NM_001040272.6

p.Q1088L

c.3263A>T

1 paper

NM_001040272.6

p.S1148S

c.3444C>G

1 paper

NM_001040272.6

p.A1153V

c.3458C>T

1 paper

NM_001040272.6

p.G1155*

c.3463G>T

2 papers

NM_001040272.6

p.G1155fs

c.3463_3464fs

1 paper

NM_001040272.6

p.G1155E

c.3464G>A

1 paper

NM_001040272.6

p.R1077H

c.3230G>A

1 paper

NM_001040272.6

p.R1162H

c.3485G>A