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

1–12 of 405 variants

13 papers

NM_014244.5

p.Q225*

c.673C>T

11 papers

NM_014244.5

p.P1177S

c.3529C>T

7 papers

NM_014244.5

p.W795*

c.2384G>A

6 papers

NM_014244.5

p.V245I

c.733G>A

6 papers

NM_014244.5

p.W795*

c.2385G>A

5 papers

NM_014244.5

p.D398D

c.1194C>T

4 papers

NM_014244.5

p.L23_P24del1

c.68_70delGCA

4 papers

NM_014244.5

p.G68_L70del3

c.202_209del9

4 papers

NM_014244.5

p.S107S

c.321T>C

4 papers

NM_014244.5

p.P224fs

c.670_671fs

4 papers

NM_014244.5

p.R241H

c.722G>A

4 papers

NM_014244.5

p.V917Splc

c.2751-2A>T