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

1–12 of 360 variants

28 papers

NM_019032.6

p.Q256_P262delFs

c.767_786del20

16 papers

NM_019032.6

p.Q256fs

c.766_767fs

15 papers

NM_019032.6

p.A193P

c.577G>C

10 papers

NM_019032.6

p.Y595*

c.1785T>G

10 papers

NM_019032.6

p.R746H

c.2237G>A

10 papers

NM_019032.6

p.G757insFs

c.2270dupG

9 papers

NM_019032.6

p.Y595*

c.1785T>A

8 papers

NM_019032.6

p.G758fs

c.2272_2273fs

7 papers

NM_019032.6

p.P654S

c.1960C>T

7 papers

NM_019032.6

p.G757delFs

c.2270delG

7 papers

NM_019032.6

p.R865H

c.2594G>A

6 papers

NM_019032.6

p.E26_V27Splc

c.79-1G>A