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

2 papers

NM_005099.6

p.A834V

c.2501C>T

Surrounding Variants

2 papers

NM_005099.6

p.R836K

c.2507G>A

1 paper

NM_005099.6

p.R829Q

c.2486G>A

1 paper

NM_005099.6

p.P814insFs

c.2440_2441insC

1 paper

NM_005099.6

p.P814fs

c.2440_2441fs

1 paper

NM_005099.6

p.R811C

c.2431C>T

1 paper

NM_005099.6

p.P810A

c.2428C>G

1 paper

NM_005099.6

p.T809M

c.2426C>T

1 paper

NM_005099.6

p.R804Q

c.2411G>A

1 paper

NM_005099.6

p.A766T

c.2296G>A

1 paper

NM_005099.6

p.G763R

c.2287G>C

1 paper

NM_005099.6

p.G763R

c.2287G>A

1 paper

NM_005099.6

p.R760C

c.2278C>T