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.R943C

c.2827C>T

Surrounding Variants

2 papers

NM_014243.3

p.R943H

c.2828G>A

1 paper

NM_014243.3

p.N942S

c.2825A>G

1 paper

NM_014243.3

p.H946R

c.2837A>G

1 paper

NM_014243.3

p.H946Q

c.2838C>G

1 paper

NM_014243.3

p.H946Q

c.2838C>A

1 paper

NM_014243.3

p.K948N

c.2844A>T

1 paper

NM_014243.3

p.K948N

c.2844A>C

1 paper

NM_014243.3

p.R932L

c.2795G>T

1 paper

NM_014243.3

p.R932C

c.2794C>T

2 papers

NM_014243.3

p.R954H

c.2861G>A

4 papers

NM_014243.3

p.R929H

c.2786G>A

1 paper

NM_014243.3

p.R929C

c.2785C>T