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.G190G

c.570G>A

Surrounding Variants

15 papers

NM_019032.6

p.A193P

c.577G>C

2 papers

NM_019032.6

p.P195L

c.584C>T

1 paper

NM_019032.6

p.P195P

c.585G>A

1 paper

NM_019032.6

p.P179T

c.535C>A

1 paper

NM_019032.6

p.P179S

c.535C>T

1 paper

NM_019032.6

p.G208S

c.622G>A

1 paper

NM_019032.6

p.R172C

c.514C>T

1 paper

NM_019032.6

p.Q211fs

c.631_632fs

1 paper

NM_019032.6

p.Q211*

c.631C>T

1 paper

NM_019032.6

p.V162M

c.484G>A

1 paper

NM_019032.6

p.V221L

c.661G>C

2 papers

NM_019032.6

p.T223S

c.667A>T