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.R781C

c.2341C>T

Surrounding Variants

2 papers

NM_019032.6

p.L780delFs

c.2339delT

2 papers

NM_019032.6

p.S777_C778insFs

c.2331_2332insG

1 paper

NM_019032.6

p.R771W

c.2311C>T

4 papers

NM_019032.6

p.L769V

c.2305C>G

1 paper

NM_019032.6

p.L769F

c.2305C>T

1 paper

NM_019032.6

p.Q794_C795Splc

c.2382+1G>A

2 papers

NM_019032.6

p.R765H

c.2294G>A

5 papers

NM_019032.6

p.P763R

c.2288C>G

3 papers

NM_019032.6

p.P763L

c.2288C>T

8 papers

NM_019032.6

p.G758fs

c.2272_2273fs

1 paper

NM_019032.6

p.G757S

c.2269G>A

1 paper

NM_019032.6

p.G757fs

c.2269_2270fs