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.L468P

c.1403T>C

Surrounding Variants

1 paper

NM_139055.4

p.G476R

c.1426G>A

1 paper

NM_139055.4

p.G476R

c.1426G>C

1 paper

NM_139055.4

p.G476E

c.1427G>A

1 paper

NM_139055.4

p.V454M

c.1360G>A

1 paper

NM_139055.4

p.R483C

c.1447C>T

1 paper

NM_139055.4

p.R483H

c.1448G>A

1 paper

NM_139055.4

p.A488A

c.1464C>T

2 papers

NM_139055.4

p.Y442H

c.1324T>C

1 paper

NM_139055.4

p.S441I

c.1322G>T

1 paper

NM_139055.4

p.G418R

c.1252G>A

1 paper

NM_139055.4

p.G418R

c.1252G>C

1 paper

NM_139055.4

p.D413N

c.1237G>A