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.R50W

c.148C>T

Surrounding Variants

1 paper

NM_005099.6

p.A49T

c.145G>A

1 paper

NM_005099.6

p.S48A

c.142T>G

1 paper

NM_005099.6

p.L26L

c.78C>A

5 papers

NM_005099.6

p.A77T

c.229G>A

1 paper

NM_005099.6

p.A79P

c.235G>C

1 paper

NM_005099.6

p.A79V

c.236C>T

1 paper

NM_005099.6

p.L85V

c.253T>G

1 paper

NM_005099.6

p.F88C

c.263T>G

1 paper

NM_005099.6

p.T4I

c.11C>T

1 paper

NM_005099.6

p.M1K

c.2T>A

1 paper

NM_005099.6

p.S100P

c.298T>C

1 paper

NM_005099.6

p.V104del1

c.310_311delGAC