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

3 papers

NM_019032.6

p.S674delFs

c.2021_2022delCT

Surrounding Variants

1 paper

NM_019032.6

p.S674F

c.2021C>T

5 papers

NM_019032.6

p.R670*

c.2008C>T

1 paper

NM_019032.6

p.C680Y

c.2039G>A

1 paper

NM_019032.6

p.C680C

c.2040C>T

2 papers

NM_019032.6

p.G681R

c.2041G>A

2 papers

NM_019032.6

p.G681R

c.2041G>C

1 paper

NM_019032.6

p.T659R

c.1976C>G

1 paper

NM_019032.6

p.G683Splc

c.2047+25G>A

7 papers

NM_019032.6

p.P654S

c.1960C>T

1 paper

NM_019032.6

p.A653T

c.1957G>A

1 paper

NM_019032.6

p.G683Splc

c.2047+47A>G

2 papers

NM_019032.6

p.R647fs

c.1939_1940fs