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

4 papers

NM_001040272.6

p.D1409G

c.4226A>G

Surrounding Variants

1 paper

NM_001040272.6

p.S1413F

c.4238C>T

1 paper

NM_001040272.6

p.L1402Q

c.4205T>A

1 paper

NM_001040272.6

p.S1396T

c.4186T>A

1 paper

NM_001040272.6

p.Q1375delFs

c.4123delC

1 paper

NM_001040272.6

p.D1372Splc

c.4114+45G>T

1 paper

NM_001040272.6

p.G1360A

c.4079G>C

1 paper

NM_001040272.6

p.H1331Q

c.3993C>A

1 paper

NM_001040272.6

p.H1331Q

c.3993C>G

2 papers

NM_001040272.6

p.R1322G

c.3964A>G

1 paper

NM_001040272.6

p.V1313fs

c.3937_3938fs