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.H349delFs

c.1047delG

Surrounding Variants

1 paper

NM_014243.3

p.D351G

c.1052A>G

1 paper

NM_014243.3

p.F355V

c.1063T>G

1 paper

NM_014243.3

p.L344V

c.1030C>G

1 paper

NM_014243.3

p.T357A

c.1069A>G

1 paper

NM_014243.3

p.T357I

c.1070C>T

1 paper

NM_014243.3

p.D360H

c.1078G>C

1 paper

NM_014243.3

p.S337P

c.1009T>C

1 paper

NM_014243.3

p.A336V

c.1007C>T

1 paper

NM_014243.3

p.W335S

c.1004G>C

1 paper

NM_014243.3

p.G365E

c.1094G>A

1 paper

NM_014243.3

p.R334H

c.1001G>A

1 paper

NM_014243.3

p.V332A

c.995T>C