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.E369D

c.1107A>C

Surrounding Variants

1 paper

NM_019032.6

p.E369D

c.1107A>T

1 paper

NM_019032.6

p.G366G

c.1098G>A

1 paper

NM_019032.6

p.W352R

c.1054T>C

1 paper

NM_019032.6

p.A377_P378Splc

c.1131+33G>C

1 paper

NM_019032.6

p.H347Q

c.1041T>A

1 paper

NM_019032.6

p.H347Q

c.1041T>G

1 paper

NM_019032.6

p.A337T

c.1009G>A

4 papers

NM_019032.6

p.G336D

c.1007G>A

1 paper

NM_019032.6

p.P326L

c.977C>T

2 papers

NM_019032.6

p.P323fs

c.967_968fs

2 papers

NM_019032.6

p.T322delFs

c.966delT

2 papers

NM_019032.6

p.T322fs

c.964_965fs