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

2 papers

NM_080722.4

p.R991Q

c.2972G>A

Surrounding Variants

1 paper

NM_080722.4

p.V994V

c.2982G>A

1 paper

NM_080722.4

p.D1008G

c.3023A>G

5 papers

NM_080722.4

p.S1017N

c.3050G>A

1 paper

NM_080722.4

p.P1019P

c.3057C>T

1 paper

NM_080722.4

p.E1036K

c.3106G>A

1 paper

NM_080722.4

p.E1036*

c.3106G>T

8 papers

NM_080722.4

p.E1049G

c.3146A>G

NM_139155.3

p.E1052G

c.3155A>G

3 papers

NM_080722.4

p.H1052R

c.3155A>G

1 paper

NM_080722.4

p.C1090Y

c.3269G>A

3 papers

NM_080722.4

p.P1106L

c.3317C>T

5 papers

NM_080722.4

p.P1108S

c.3322C>T

NM_139155.3

p.P1111S

c.3331C>T

3 papers

NM_080722.4

p.T1109I

c.3326C>T