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.S741R

c.2221A>C

Surrounding Variants

1 paper

NM_014272.5

p.S741R

c.2223C>G

1 paper

NM_014272.5

p.S741R

c.2223C>A

1 paper

NM_014272.5

p.A733S

c.2197G>T

1 paper

NM_014272.5

p.E732A

c.2195A>C

1 paper

NM_014272.5

p.G751R

c.2251G>C

1 paper

NM_014272.5

p.G752V

c.2255G>T

1 paper

NM_014272.5

p.E729A

c.2186A>C

1 paper

NM_014272.5

p.T754N

c.2261C>A

1 paper

NM_014272.5

p.T780M

c.2339C>T

1 paper

NM_014272.5

p.V789A

c.2366T>C

1 paper

NM_014272.5

p.Q796fs

c.2386_2387fs

1 paper

NM_014272.5

p.Y806H

c.2416T>C