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

2 papers

NM_019032.6

p.Y595insFs

c.1783dupT

Surrounding Variants

4 papers

NM_019032.6

p.G592S

c.1774G>A

1 paper

NM_019032.6

p.Y595H

c.1783T>C

1 paper

NM_019032.6

p.Y595F

c.1784A>T

9 papers

NM_019032.6

p.Y595*

c.1785T>A

10 papers

NM_019032.6

p.Y595*

c.1785T>G

1 paper

NM_019032.6

p.Q596fs

c.1786_1787fs

1 paper

NM_019032.6

p.P609S

c.1825C>T

1 paper

NM_019032.6

p.P611T

c.1831C>A

1 paper

NM_019032.6

p.P613S

c.1837C>T

1 paper

NM_019032.6

p.P616S

c.1846C>T

1 paper

NM_019032.6

p.L618L

c.1854T>G

1 paper

NM_019032.6

p.E621Splc

c.1861+13C>T