Varaico: Literature-Extracted Genetic Variants

ADAMTS4

127 papers

RefSeq Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of this family share several distinct protein modules, including a pro...

Pfam Domains

Reprolysinaa 218–428UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 439–507UCSCADAMTS cysteine-rich domain 2

TSP_1aa 524–574UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 578–685UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 687–803UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 4

HGNC Alias Symbols

KIAA0688; ADAMTS-2; ADMP-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005099.6

p.Y155*

c.465T>G

Surrounding Variants

1 paper

NM_005099.6

p.Y155*

c.465T>A

1 paper

NM_005099.6

p.L153insFs

c.457_458insTT

1 paper

NM_005099.6

p.V152_L153insFs

c.456_457insGG

1 paper

NM_005099.6

p.L162fs

c.484_485fs

1 paper

NM_005099.6

p.G147fs

c.439_440fs

2 papers

NM_005099.6

p.G146E

c.437G>A

1 paper

NM_005099.6

p.E166K

c.496G>A

1 paper

NM_005099.6

p.S138insFs

c.412dupT

2 papers

NM_005099.6

p.G174V

c.521G>T

1 paper

NM_005099.6

p.G175G

c.525A>G

1 paper

NM_005099.6

p.N133K

c.399T>G

1 paper

NM_005099.6

p.N133K

c.399T>A