Varaico: Literature-Extracted Genetic Variants

ADAMTS9

193 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 49–157UCSCReprolysin family propeptide

Reprolysinaa 293–499UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 511–578UCSCADAMTS cysteine-rich domain 2

TSP_1aa 590–642UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 645–752UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 754–871UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 9

HGNC Alias Symbol

KIAA1312

Papers

RefSeq ID

Protein change

DNA change

1–12 of 299 variants

6 papers

NM_182920.2

p.T65R

c.194C>G

4 papers

NM_182920.2

p.R1203W

c.3607C>T

4 papers

NM_182920.2

p.R1515*

c.4543C>T

4 papers

NM_182920.2

p.Q1525fs

c.4573_4574fs

4 papers

NM_182920.2

p.Q1525_I1526delFs

c.4575_4576delTC

3 papers

NM_182920.2

p.R209C

c.625C>T

3 papers

NM_182920.2

p.S636F

c.1907C>T

3 papers

NM_182920.2

p.R647Q

c.1940G>A

3 papers

NM_182920.2

p.K1740R

c.5219A>G

2 papers

NM_182920.2

p.I76V

c.226A>G

2 papers

NM_182920.2

p.S96T

c.286T>A

2 papers

NM_182920.2

p.D658G

c.1973A>G