Varaico: Literature-Extracted Genetic Variants

ADAMTSL4

228 papers

RefSeq Summary

This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin typ...

Pfam Domains

TSP_1aa 48–83UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 387–484UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 486–600UCSCADAM-TS Spacer 1

TSP1_ADAMTSaa 727–783UCSCThrombospondin type 1 domain

TSP1_ADAMTSaa 786–841UCSCThrombospondin type 1 domain

TSP1_ADAMTSaa 845–908UCSCThrombospondin type 1 domain

Gene Aliases

HGNC Name

ADAMTS like 4

HGNC Previous Symbol

TSRC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_019032.6

p.R309*

c.925C>T

Surrounding Variants

5 papers

NM_019032.6

p.R309Q

c.926G>A

1 paper

NM_019032.6

p.R307Q

c.920G>A

1 paper

NM_019032.6

p.P301fs

c.901_902fs

1 paper

NM_019032.6

p.W317*

c.950G>A

1 paper

NM_019032.6

p.P301delFs

c.902delC

1 paper

NM_019032.6

p.W317*

c.951G>A

2 papers

NM_019032.6

p.G321insFs

c.963dupG

1 paper

NM_019032.6

p.G320V

c.959G>T

2 papers

NM_019032.6

p.T322fs

c.964_965fs

1 paper

NM_019032.6

p.G296fs

c.886_887fs

2 papers

NM_019032.6

p.T322delFs

c.966delT

1 paper

NM_019032.6

p.A295_G296delFs

c.885_886delAG