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

1 paper

NM_019032.6

p.R865C

c.2593C>T

Surrounding Variants

1 paper

NM_019032.6

p.R865G

c.2593C>G

8 papers

NM_019032.6

p.R865H

c.2594G>A

NM_001288608.2

p.R888H

c.2663G>A

2 papers

NM_019032.6

p.R864Q

c.2591G>A

1 paper

NM_019032.6

p.I862insFs

c.2586dupC

1 paper

NM_019032.6

p.V868V

c.2604C>T

1 paper

NM_019032.6

p.T860M

c.2579C>T

1 paper

NM_019032.6

p.G871R

c.2611G>A

1 paper

NM_019032.6

p.G871V

c.2612G>T

1 paper

NM_019032.6

p.C854Y

c.2561G>A

1 paper

NM_019032.6

p.C854R

c.2560T>C

2 papers

NM_019032.6

p.G877R

c.2629G>A

2 papers

NM_019032.6

p.G877R

c.2629G>C