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

2 papers

NM_014243.3

p.G298R

c.892G>A

Surrounding Variants

2 papers

NM_014243.3

p.G298R

c.892G>C

1 paper

NM_014243.3

p.L297F

c.889C>T

1 paper

NM_014243.3

p.D294V

c.881A>T

6 papers

NM_014243.3

p.I291T

c.872T>C

1 paper

NM_014243.3

p.E290delFs

c.868delC

1 paper

NM_014243.3

p.E290K

c.868G>A

1 paper

NM_014243.3

p.R307H

c.920G>A

1 paper

NM_014243.3

p.G312E

c.935G>A

1 paper

NM_014243.3

p.K315N

c.945G>T

1 paper

NM_014243.3

p.K315N

c.945G>C

1 paper

NM_014243.3

p.K315_S316Splc

c.946-2A>G

1 paper

NM_014243.3

p.V332M

c.994G>A