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.L17V

c.49C>G

Surrounding Variants

2 papers

NM_014244.5

p.P14S

c.40C>T

1 paper

NM_014244.5

p.P14_L20delFs

c.42_60del19

1 paper

NM_014244.5

p.L22R

c.65T>G

1 paper

NM_014244.5

p.L11delFs

c.32delA

1 paper

NM_014244.5

p.L11fs

c.31_32fs

3 papers

NM_014244.5

p.P24ins1

c.70_71insTGC

1 paper

NM_014244.5

p.P24L

c.71C>T

2 papers

NM_014244.5

p.P24ins1

c.71_72insTGC

4 papers

NM_014244.5

p.L23_P24del1

c.68_70delGCA

1 paper

NM_014244.5

p.R9H

c.26G>A

1 paper

NM_014244.5

p.A8delFs

c.23_24delAG

1 paper

NM_014244.5

p.L23_P24del2

c.67_71del6