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

8 papers

NM_080722.4

p.L590P

c.1769T>C

NM_139155.3

p.L593P

c.1778T>C

Surrounding Variants

1 paper

NM_080722.4

p.V600D

c.1799T>A

1 paper

NM_080722.4

p.C606S

c.1816T>A

1 paper

NM_080722.4

p.C606S

c.1817G>C

1 paper

NM_080722.4

p.Q616H

c.1848G>C

1 paper

NM_080722.4

p.Q616H

c.1848G>T

1 paper

NM_080722.4

p.S623F

c.1868C>T

1 paper

NM_080722.4

p.S623S

c.1869C>G

1 paper

NM_080722.4

p.R577Q

c.1730G>A

1 paper

NM_080722.4

p.R573*

c.1717C>T

1 paper

NM_080722.4

p.G571R

c.1711G>A

1 paper

NM_080722.4

p.G571R

c.1711G>C

1 paper

NM_080722.4

p.G570G

c.1710C>T