Varaico: Literature-Extracted Genetic Variants

ADAMTS3

149 papers

RefSeq Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a prop...

Pfam Domains

Pep_M12B_propepaa 43–153UCSCReprolysin family propeptide

Reprolysinaa 257–460UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 472–541UCSCADAMTS cysteine-rich domain 2

TSP_1aa 553–605UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 610–712UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 714–827UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 3

HGNC Alias Symbols

KIAA0366; ADAMTS-4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014243.3

p.S392C

c.1175C>G

Surrounding Variants

1 paper

NM_014243.3

p.S391L

c.1172C>T

1 paper

NM_014243.3

p.G389G

c.1167T>C

1 paper

NM_014243.3

p.V395I

c.1183G>A

1 paper

NM_014243.3

p.E399K

c.1195G>A

1 paper

NM_014243.3

p.H402N

c.1204C>A

1 paper

NM_014243.3

p.G374S

c.1120G>A

1 paper

NM_014243.3

p.P371S

c.1111C>T

1 paper

NM_014243.3

p.A370T

c.1108G>A

1 paper

NM_014243.3

p.H408Y

c.1222C>T

1 paper

NM_014243.3

p.G412S

c.1234G>A

1 paper

NM_014243.3

p.F433L

c.1297T>C

1 paper

NM_014243.3

p.F433L

c.1299C>G