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.R737C

c.2209C>T

Surrounding Variants

1 paper

NM_019032.6

p.W732*

c.2196G>A

1 paper

NM_019032.6

p.P741P

c.2223C>T

1 paper

NM_019032.6

p.W732*

c.2195G>A

1 paper

NM_019032.6

p.G730G

c.2190C>T

6 papers

NM_019032.6

p.R746C

c.2236C>T

10 papers

NM_019032.6

p.R746H

c.2237G>A

1 paper

NM_019032.6

p.W727R

c.2179T>C

1 paper

NM_019032.6

p.Q747Q

c.2241G>A

1 paper

NM_019032.6

p.Y726Splc

c.2178-2A>G

1 paper

NM_019032.6

p.Y726Splc

c.2178-7C>A

1 paper

NM_019032.6

p.C750Y

c.2249G>A

1 paper

NM_019032.6

p.R751fs

c.2251_2252fs