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.D90A

c.269A>C

Surrounding Variants

1 paper

NM_014243.3

p.L93L

c.277C>T

2 papers

NM_014243.3

p.R94*

c.280C>T

1 paper

NM_014243.3

p.R94L

c.281G>T

1 paper

NM_014243.3

p.R94Q

c.281G>A

1 paper

NM_014243.3

p.L95L

c.283C>T

1 paper

NM_014243.3

p.N98S

c.293A>G

1 paper

NM_014243.3

p.F81L

c.243C>G

1 paper

NM_014243.3

p.F81L

c.243C>A

1 paper

NM_014243.3

p.F81L

c.241T>C

1 paper

NM_014243.3

p.P77T

c.229C>A

1 paper

NM_014243.3

p.N76K

c.228C>G

1 paper

NM_014243.3

p.N76K

c.228C>A