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

2 papers

NM_001040272.6

p.G51G

c.153T>A

Surrounding Variants

1 paper

NM_001040272.6

p.A53A

c.159C>G

1 paper

NM_001040272.6

p.S54F

c.161C>T

1 paper

NM_001040272.6

p.T48insFs

c.142dupA

1 paper

NM_001040272.6

p.R58G

c.172A>G

1 paper

NM_001040272.6

p.R59G

c.175C>G

3 papers

NM_001040272.6

p.R59H

c.176G>A

1 paper

NM_001040272.6

p.E44K

c.130G>A

1 paper

NM_001040272.6

p.E44*

c.130G>T

5 papers

NM_001040272.6

p.W42R

c.124T>A

5 papers

NM_001040272.6

p.W42R

c.124T>C

1 paper

NM_001040272.6

p.G40D

c.119G>A

1 paper

NM_001040272.6

p.D37Y

c.109G>T