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.R645Q

c.1934G>A

Surrounding Variants

1 paper

NM_014272.5

p.D650A

c.1949A>C

1 paper

NM_014272.5

p.C669G

c.2005T>G

1 paper

NM_014272.5

p.K613E

c.1837A>G

1 paper

NM_014272.5

p.R600H

c.1799G>A

1 paper

NM_014272.5

p.P593P

c.1779T>C

3 papers

NM_014272.5

p.P593S

c.1777C>T

1 paper

NM_014272.5

p.R581R

c.1743C>G

1 paper

NM_014272.5

p.T696P

c.2086A>C

1 paper

NM_014272.5

p.R563W

c.1687C>T

1 paper

NM_014272.5

p.W521R

c.1561T>C

1 paper

NM_014272.5

p.W521R

c.1561T>A

1 paper

NM_014272.5

p.E729A

c.2186A>C