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.R634L

c.1901G>T

Surrounding Variants

1 paper

NM_019032.6

p.R634H

c.1901G>A

2 papers

NM_019032.6

p.R634C

c.1900C>T

1 paper

NM_019032.6

p.A636T

c.1906G>A

1 paper

NM_019032.6

p.P627S

c.1879C>T

1 paper

NM_019032.6

p.Q643L

c.1928A>T

1 paper

NM_019032.6

p.V646insFs

c.1937dupT

2 papers

NM_019032.6

p.R647fs

c.1939_1940fs

1 paper

NM_019032.6

p.A653T

c.1957G>A

7 papers

NM_019032.6

p.P654S

c.1960C>T

1 paper

NM_019032.6

p.T659R

c.1976C>G

1 paper

NM_019032.6

p.E621Splc

c.1862-37G>A

5 papers

NM_019032.6

p.R670*

c.2008C>T