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

2 papers

NM_139055.4

p.C878G

c.2632T>G

Surrounding Variants

1 paper

NM_139055.4

p.A880T

c.2638G>A

1 paper

NM_139055.4

p.A881V

c.2642C>T

1 paper

NM_139055.4

p.A870A

c.2610C>T

1 paper

NM_139055.4

p.A870T

c.2608G>A

1 paper

NM_139055.4

p.S869F

c.2606C>T

1 paper

NM_139055.4

p.A863E

c.2588C>A

1 paper

NM_139055.4

p.G858S

c.2572G>A

1 paper

NM_139055.4

p.A901A

c.2703C>A

1 paper

NM_139055.4

p.C905W

c.2715C>G

1 paper

NM_139055.4

p.P850S

c.2548C>T

2 papers

NM_139055.4

p.G849fs

c.2545_2546fs

1 paper

NM_139055.4

p.P839P

c.2517C>A