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.H258H

c.774C>T

Surrounding Variants

1 paper

NM_014272.5

p.G259R

c.775G>C

1 paper

NM_014272.5

p.G259R

c.775G>A

1 paper

NM_014272.5

p.Q260R

c.779A>G

1 paper

NM_014272.5

p.M254V

c.760A>G

1 paper

NM_014272.5

p.E264G

c.791A>G

1 paper

NM_014272.5

p.L247R

c.740T>G

1 paper

NM_014272.5

p.R232C

c.694C>T

1 paper

NM_014272.5

p.R229W

c.685C>T

1 paper

NM_014272.5

p.Q221P

c.662A>C

1 paper

NM_014272.5

p.R218H

c.653G>A

1 paper

NM_014272.5

p.R216W

c.646C>T

1 paper

NM_014272.5

p.R215*

c.643C>T