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

5 papers

NM_019032.6

p.G757fs

c.2269_2270fs

Surrounding Variants

1 paper

NM_019032.6

p.G757S

c.2269G>A

1 paper

NM_019032.6

p.G757fs

c.2269_2270fs

8 papers

NM_019032.6

p.G758fs

c.2272_2273fs

1 paper

NM_019032.6

p.G755E

c.2264G>A

1 paper

NM_019032.6

p.G755fs

c.2263_2264fs

10 papers

NM_019032.6

p.G757insFs

c.2270dupG

7 papers

NM_019032.6

p.G757delFs

c.2270delG

2 papers

NM_019032.6

p.F754fs

c.2260_2261fs

1 paper

NM_019032.6

p.F754delFs

c.2262delT

6 papers

NM_019032.6

p.Q752*

c.2254C>T

1 paper

NM_019032.6

p.R751Q

c.2252G>A

1 paper

NM_019032.6

p.R751fs

c.2251_2252fs