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.F198V

c.592T>G

Surrounding Variants

1 paper

NM_139055.4

p.R204Q

c.611G>A

1 paper

NM_139055.4

p.D189G

c.566A>G

1 paper

NM_139055.4

p.S178L

c.533C>T

1 paper

NM_139055.4

p.Y219H

c.655T>C

1 paper

NM_139055.4

p.T222M

c.665C>T

1 paper

NM_139055.4

p.S172Y

c.515C>A

1 paper

NM_139055.4

p.A226_D227del2

c.676_680del6

1 paper

NM_139055.4

p.A226_D227del1

c.678_680delGGA

1 paper

NM_139055.4

p.E228K

c.682G>A

1 paper

NM_139055.4

p.G168fs

c.502_503fs

1 paper

NM_139055.4

p.S167insFs

c.500_501ins46

1 paper

NM_139055.4

p.H234R

c.701A>G