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.R1053C

c.3157C>T

Surrounding Variants

1 paper

NM_014243.3

p.S1054R

c.3160A>C

1 paper

NM_014243.3

p.S1054R

c.3162T>G

1 paper

NM_014243.3

p.S1054R

c.3162T>A

1 paper

NM_014243.3

p.S1055C

c.3163A>T

1 paper

NM_014243.3

p.S1038F

c.3113C>T

2 papers

NM_014243.3

p.R1035*

c.3103C>T

1 paper

NM_014243.3

p.V1032fs

c.3094_3095fs

1 paper

NM_014243.3

p.Q1029R

c.3086A>G

1 paper

NM_014243.3

p.D1078N

c.3232G>A

1 paper

NM_014243.3

p.H1093Y

c.3277C>T

1 paper

NM_014243.3

p.P1097T

c.3289C>A

1 paper

NM_014243.3

p.I1106F

c.3316A>T