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

1–12 of 228 variants

7 papers

NM_014243.3

p.R138K

c.413G>A

7 papers

NM_014243.3

p.R565Q

c.1694G>A

6 papers

NM_014243.3

p.I291T

c.872T>C

5 papers

NM_014243.3

p.L168P

c.503T>C

4 papers

NM_014243.3

p.R929H

c.2786G>A

3 papers

NM_014243.3

p.R1196C

c.3586C>T

2 papers

NM_014243.3

p.R94*

c.280C>T

2 papers

NM_014243.3

p.P183L

c.548C>T

2 papers

NM_014243.3

p.R248H

c.743G>A

2 papers

NM_014243.3

p.G298R

c.892G>C

2 papers

NM_014243.3

p.G298R

c.892G>A

2 papers

NM_014243.3

p.Y449Y

c.1347T>C