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.W475S

c.1424G>C

Surrounding Variants

1 paper

NM_014244.5

p.L478V

c.1432C>G

1 paper

NM_014244.5

p.A472T

c.1414G>A

1 paper

NM_014244.5

p.D469G

c.1406A>G

1 paper

NM_014244.5

p.L481L

c.1443C>A

1 paper

NM_014244.5

p.P482L

c.1445C>T

1 paper

NM_014244.5

p.L466delFs

c.1398delC

1 paper

NM_014244.5

p.P482insFs

c.1446dupG

1 paper

NM_014244.5

p.C465Y

c.1394G>A

1 paper

NM_014244.5

p.D464Y

c.1390G>T

1 paper

NM_014244.5

p.Y486Y

c.1458C>T

1 paper

NM_014244.5

p.S462_Y463insFs

c.1386_1387ins8

1 paper

NM_014244.5

p.N489S

c.1466A>G