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.P494S

c.1480C>T

Surrounding Variants

1 paper

NM_005099.6

p.G496A

c.1487G>C

1 paper

NM_005099.6

p.D491N

c.1471G>A

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.A469V

c.1406C>T

1 paper

NM_005099.6

p.P461L

c.1382C>T

1 paper

NM_005099.6

p.D456fs

c.1366_1367fs

1 paper

NM_005099.6

p.Q450*

c.1348C>T

1 paper

NM_005099.6

p.R447L

c.1340G>T

1 paper

NM_005099.6

p.T437I

c.1310C>T

1 paper

NM_005099.6

p.K427N

c.1281A>T

1 paper

NM_005099.6

p.K427N

c.1281A>C