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.C563Y

c.1688G>A

Surrounding Variants

1 paper

NM_014243.3

p.R565W

c.1693C>T

7 papers

NM_014243.3

p.R565Q

c.1694G>A

1 paper

NM_014243.3

p.C567R

c.1699T>C

1 paper

NM_014243.3

p.C567Y

c.1700G>A

1 paper

NM_014243.3

p.T558I

c.1673C>T

1 paper

NM_014243.3

p.T558P

c.1672A>C

2 papers

NM_014243.3

p.R572C

c.1714C>T

1 paper

NM_014243.3

p.R572H

c.1715G>A

1 paper

NM_014243.3

p.R576L

c.1727G>T

1 paper

NM_014243.3

p.R576H

c.1727G>A

1 paper

NM_014243.3

p.A545P

c.1633G>C

1 paper

NM_014243.3

p.W542R

c.1624T>C