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

16 papers

NM_019032.6

p.Q256fs

c.766_767fs

Surrounding Variants

3 papers

NM_019032.6

p.Q256fs

c.766_767fs

1 paper

NM_019032.6

p.A255V

c.764C>T

1 paper

NM_019032.6

p.Q256_P263del0

c.767_787del21

1 paper

NM_019032.6

p.A257V

c.770C>T

28 papers

NM_019032.6

p.Q256_P262delFs

c.767_786del20

1 paper

NM_019032.6

p.G259V

c.776G>T

1 paper

NM_019032.6

p.P262delFs

c.784delC

4 papers

NM_019032.6

p.L249fs

c.745_746fs

1 paper

NM_019032.6

p.P248P

c.744C>A

1 paper

NM_019032.6

p.P248S

c.742C>T

3 papers

NM_019032.6

p.L249delFs

c.745delC

1 paper

NM_019032.6

p.P265L

c.794C>T