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.P552T

c.1654C>A

Surrounding Variants

1 paper

NM_005099.6

p.V540delFs

c.1618delC

1 paper

NM_005099.6

p.T564A

c.1690A>G

1 paper

NM_005099.6

p.C536Y

c.1607G>A

1 paper

NM_005099.6

p.S568S

c.1704C>T

1 paper

NM_005099.6

p.P528L

c.1583C>T

1 paper

NM_005099.6

p.Q513H

c.1539G>T

1 paper

NM_005099.6

p.Q513H

c.1539G>C

1 paper

NM_005099.6

p.G496A

c.1487G>C

1 paper

NM_005099.6

p.P494S

c.1480C>T

1 paper

NM_005099.6

p.D491N

c.1471G>A

1 paper

NM_005099.6

p.A469V

c.1406C>T

1 paper

NM_005099.6

p.P461L

c.1382C>T