Varaico: Literature-Extracted Genetic Variants

ADAMTS2

284 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 58–162UCSCReprolysin family propeptide

Reprolysinaa 266–470UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 482–551UCSCADAMTS cysteine-rich domain 2

TSP_1aa 564–615UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 620–722UCSCADAMTS cysteine-rich domain

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 2

HGNC Alias Symbols

ADAMTS-3; hPCPNI; PCINP; ADAM-TS2; NPI

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014244.5

p.P945L

c.2834C>T

Surrounding Variants

1 paper

NM_014244.5

p.D948del1

c.2842_2843delGTC

1 paper

NM_014244.5

p.R941H

c.2822G>A

1 paper

NM_014244.5

p.N949T

c.2846A>C

1 paper

NM_014244.5

p.V940M

c.2818G>A

1 paper

NM_014244.5

p.S939Y

c.2816C>A

1 paper

NM_014244.5

p.R952P

c.2855G>C

1 paper

NM_014244.5

p.R938P

c.2813G>C

1 paper

NM_014244.5

p.S953F

c.2858C>T

3 papers

NM_014244.5

p.R932Q

c.2795G>A

1 paper

NM_014244.5

p.Q928H

c.2784G>T

1 paper

NM_014244.5

p.Q928H

c.2784G>C

1 paper

NM_014244.5

p.A962T

c.2884G>A