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.G906R

c.2716G>A

Surrounding Variants

1 paper

NM_019032.6

p.G906R

c.2716G>C

1 paper

NM_001288607.2

p.S865N

c.2594G>A

1 paper

NM_019032.6

p.C908*

c.2724T>A

1 paper

NM_019032.6

p.A902T

c.2704G>A

1 paper

NM_019032.6

p.R913H

c.2738G>A

1 paper

NM_019032.6

p.P898delFs

c.2693_2694delCT

1 paper

NM_019032.6

p.P898fs

c.2692_2693fs

1 paper

NM_019032.6

p.R896L

c.2687G>T

1 paper

NM_019032.6

p.W919*

c.2756G>A

1 paper

NM_019032.6

p.W919C

c.2757G>C

1 paper

NM_019032.6

p.W919C

c.2757G>T

6 papers

NM_019032.6

p.G888E

c.2663G>A