Varaico: Literature-Extracted Genetic Variants

ADAMTS15

94 papers

RefSeq Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a prop...

Pfam Domains

Pep_M12B_propepaa 24–108UCSCReprolysin family propeptide

Reprolysinaa 218–427UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 438–505UCSCADAMTS cysteine-rich domain 2

TSP_1aa 520–570UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 579–682UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 684–801UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 15

HGNC Previous Name

a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_139055.4

p.E22*

c.64G>T

Surrounding Variants

1 paper

NM_139055.4

p.T15N

c.44C>A

1 paper

NM_139055.4

p.Y41*

c.123C>A

1 paper

NM_139055.4

p.Y41*

c.123C>G

1 paper

NM_139055.4

p.A76delFs

c.226_227delGC

1 paper

NM_139055.4

p.Y103C

c.308A>G

1 paper

NM_139055.4

p.C120*

c.360C>A

1 paper

NM_139055.4

p.G121W

c.361G>T

1 paper

NM_139055.4

p.G122fs

c.364_365fs

1 paper

NM_139055.4

p.G128D

c.383G>A

6 papers

NM_139055.4

p.E133Q

c.397G>C

2 papers

NM_139055.4

p.P145T

c.433C>A

1 paper

NM_139055.4

p.A146fs

c.436_437fs