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

2 papers

NM_019032.6

p.R87P

c.260G>C

Surrounding Variants

1 paper

NM_019032.6

p.P88L

c.263C>T

1 paper

NM_019032.6

p.H91fs

c.271_272fs

3 papers

NM_019032.6

p.P80fs

c.238_239fs

2 papers

NM_019032.6

p.H79delFs

c.237delC

2 papers

NM_019032.6

p.L78F

c.232C>T

1 paper

NM_019032.6

p.R98W

c.292C>T

2 papers

NM_019032.6

p.R98delFs

c.293delG

2 papers

NM_019032.6

p.R98Q

c.293G>A

1 paper

NM_019032.6

p.V76M

c.226G>A

2 papers

NM_019032.6

p.G99fs

c.295_296fs

1 paper

NM_019032.6

p.Q72*

c.214C>T

1 paper

NM_019032.6

p.T70fs

c.208_209fs