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.G942E

c.2825G>A

Surrounding Variants

2 papers

NM_080722.4

p.H944R

c.2831A>G

1 paper

NM_080722.4

p.V946I

c.2836G>A

8 papers

NM_080722.4

p.L937M

c.2809C>A

NM_139155.3

p.L940M

c.2818C>A

1 paper

NM_080722.4

p.A949T

c.2845G>A

1 paper

NM_139155.3

p.Q937K

c.2809C>A

1 paper

NM_080722.4

p.G932G

c.2796G>T

3 papers

NM_080722.4

p.C952C

c.2856C>T

1 paper

NM_080722.4

p.Q929H

c.2787G>C

1 paper

NM_080722.4

p.Q929H

c.2787G>T

1 paper

NM_080722.4

p.D955D

c.2865C>T

1 paper

NM_080722.4

p.V928M

c.2782G>A

1 paper

NM_080722.4

p.E958K

c.2872G>A