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.Y234N

c.700T>A

Surrounding Variants

1 paper

NM_014243.3

p.Y234C

c.701A>G

2 papers

NM_014243.3

p.R248H

c.743G>A

1 paper

NM_014243.3

p.R249*

c.745A>T

1 paper

NM_014243.3

p.G252E

c.755G>A

1 paper

NM_014243.3

p.D255Y

c.763G>T

1 paper

NM_014243.3

p.E259K

c.775G>A

1 paper

NM_014243.3

p.R270H

c.809G>A

1 paper

NM_014243.3

p.H276R

c.827A>G

1 paper

NM_014243.3

p.V277D

c.830T>A

1 paper

NM_014243.3

p.I287F

c.859A>T