Varaico: Literature-Extracted Genetic Variants

ADAMTS7

164 papers

RefSeq Summary

The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this family share several distinct protein modules, inclu...

Pfam Domains

Pep_M12B_propepaa 44–135UCSCReprolysin family propeptide

Reprolysinaa 242–452UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 464–528UCSCADAMTS cysteine-rich domain 2

TSP_1aa 542–592UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 593–697UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 699–809UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 7

HGNC Alias Symbols

ADAM-TS7; DKFZp434H204

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014272.5

p.R293C

c.877C>T

Surrounding Variants

2 papers

NM_014272.5

p.I291T

c.872T>C

1 paper

NM_014272.5

p.V295G

c.884T>G

1 paper

NM_014272.5

p.I289V

c.865A>G

1 paper

NM_014272.5

p.I287F

c.859A>T

1 paper

NM_014272.5

p.P281A

c.841C>G

1 paper

NM_014272.5

p.H279Y

c.835C>T

6 papers

NM_014272.5

p.T307M

c.920C>T

1 paper

NM_014272.5

p.A330V

c.989C>T

2 papers

NM_014272.5

p.H334Q

c.1002C>G

2 papers

NM_014272.5

p.H334Q

c.1002C>A

1 paper

NM_014272.5

p.T342I

c.1025C>T

1 paper

NM_014272.5

p.P353L

c.1058C>T