Varaico: Literature-Extracted Genetic Variants

ADAMTS14

112 papers

RefSeq Summary

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

Pfam Domains

Pep_M12B_propepaa 39–159UCSCReprolysin family propeptide

Reprolysinaa 259–460UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 472–541UCSCADAMTS cysteine-rich domain 2

TSP_1aa 555–606UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 609–713UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 715–829UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 14

HGNC Previous Name

a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_080722.4

p.D184N

c.550G>A

Surrounding Variants

2 papers

NM_080722.4

p.R179C

c.535C>T

2 papers

NM_080722.4

p.R192W

c.574C>T

1 paper

NM_080722.4

p.A175G

c.524C>G

1 paper

NM_080722.4

p.A175V

c.524C>T

1 paper

NM_080722.4

p.S200N

c.599G>A

1 paper

NM_080722.4

p.R209W

c.625C>T

1 paper

NM_080722.4

p.R209Q

c.626G>A

1 paper

NM_080722.4

p.V212I

c.634G>A

1 paper

NM_080722.4

p.D220Y

c.658G>T

1 paper

NM_080722.4

p.P234A

c.700C>G

1 paper

NM_080722.4

p.G245S

c.733G>A

1 paper

NM_080722.4

p.R252W

c.754C>T