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

3 papers

NM_014243.3

p.R1196C

c.3586C>T

Surrounding Variants

1 paper

NM_014243.3

p.S1200*

c.3599C>G

1 paper

NM_014243.3

p.S1200*

c.3599C>A

1 paper

NM_014243.3

p.*1206S

c.3617G>C

1 paper

NM_014243.3

p.A1167V

c.3500C>T

1 paper

NM_014243.3

p.P1148L

c.3443C>T

1 paper

NM_014243.3

p.V1142M

c.3424G>A

1 paper

NM_014243.3

p.G1138E

c.3413G>A

1 paper

NM_014243.3

p.Q1135*

c.3403C>T

1 paper

NM_014243.3

p.G1111S

c.3331G>A

1 paper

NM_014243.3

p.G1110V

c.3329G>T

1 paper

NM_014243.3

p.I1106F

c.3316A>T

1 paper

NM_014243.3

p.P1097T

c.3289C>A