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.P381A

c.1141C>G

Surrounding Variants

2 papers

NM_019032.6

p.A388insFs

c.1162dupG

1 paper

NM_019032.6

p.R387L

c.1160G>T

3 papers

NM_019032.6

p.A388fs

c.1162_1163fs

2 papers

NM_019032.6

p.A392P

c.1174G>C

1 paper

NM_019032.6

p.A377_P378Splc

c.1132-54C>A

1 paper

NM_019032.6

p.L403fs

c.1207_1208fs

1 paper

NM_019032.6

p.L403delFs

c.1209delG

1 paper

NM_019032.6

p.Y404insFs

c.1210dupT

1 paper

NM_019032.6

p.Y404fs

c.1210_1211fs

1 paper

NM_019032.6

p.E407V

c.1220A>T

1 paper

NM_019032.6

p.V412I

c.1234G>A

1 paper

NM_019032.6

p.A377_P378Splc

c.1131+33G>C