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

5 papers

NM_005099.6

p.P720A

c.2158C>G

Surrounding Variants

1 paper

NM_005099.6

p.L727L

c.2179T>C

1 paper

NM_005099.6

p.A709fs

c.2125_2126fs

1 paper

NM_005099.6

p.T704S

c.2111C>G

1 paper

NM_005099.6

p.T704S

c.2110A>T

1 paper

NM_005099.6

p.V702L

c.2104G>T

1 paper

NM_005099.6

p.V702L

c.2104G>C

1 paper

NM_005099.6

p.N739S

c.2216A>G

1 paper

NM_005099.6

p.Y699S

c.2096A>C

1 paper

NM_005099.6

p.Y697Y

c.2091C>T

1 paper

NM_005099.6

p.R760C

c.2278C>T

1 paper

NM_005099.6

p.G763R

c.2287G>C

1 paper

NM_005099.6

p.G763R

c.2287G>A