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.G45V

c.134G>T

Surrounding Variants

4 papers

NM_019032.6

p.E44K

c.130G>A

1 paper

NM_019032.6

p.P43_E44delFs

c.129_130delCG

1 paper

NM_019032.6

p.P43fs

c.127_128fs

1 paper

NM_019032.6

p.Q41H

c.123G>C

1 paper

NM_019032.6

p.Q41H

c.123G>T

1 paper

NM_019032.6

p.T37I

c.110C>T

1 paper

NM_019032.6

p.G61R

c.181G>A

1 paper

NM_019032.6

p.G61R

c.181G>C

1 paper

NM_019032.6

p.V62fs

c.184_185fs

6 papers

NM_019032.6

p.E26_V27Splc

c.79-1G>A

1 paper

NM_019032.6

p.Q65*

c.193C>T

1 paper

NM_019032.6

p.R67_S68insFs

c.201_202ins4