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.R240C

c.718C>T

Surrounding Variants

1 paper

NM_005099.6

p.A232T

c.694G>A

2 papers

NM_005099.6

p.A226V

c.677C>T

1 paper

NM_005099.6

p.A226T

c.676G>A

1 paper

NM_005099.6

p.V224A

c.671T>C

1 paper

NM_005099.6

p.V224L

c.670G>T

1 paper

NM_005099.6

p.V224L

c.670G>C

1 paper

NM_005099.6

p.P256L

c.767C>T

1 paper

NM_005099.6

p.R259C

c.775C>T

1 paper

NM_005099.6

p.R259H

c.776G>A

2 papers

NM_005099.6

p.S263C

c.787A>T

1 paper

NM_005099.6

p.R268Q

c.803G>A

1 paper

NM_005099.6

p.A286S

c.856G>T