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.R694C

c.2080C>T

Surrounding Variants

1 paper

NM_019032.6

p.S693Y

c.2078C>A

1 paper

NM_019032.6

p.I692T

c.2075T>C

1 paper

NM_019032.6

p.S696*

c.2087C>A

3 papers

NM_019032.6

p.S696L

c.2087C>T

1 paper

NM_019032.6

p.G697_E699del3

c.2089_2096del9

1 paper

NM_019032.6

p.R686H

c.2057G>A

1 paper

NM_019032.6

p.R703H

c.2108G>A

1 paper

NM_019032.6

p.S704G

c.2110A>G

1 paper

NM_019032.6

p.A707A

c.2121G>A

1 paper

NM_019032.6

p.C718delFs

c.2153delG

2 papers

NM_019032.6

p.C723*

c.2169C>A

1 paper

NM_019032.6

p.P724L

c.2171C>T