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

3 papers

NM_014272.5

p.V1388A

c.4163T>C

Surrounding Variants

1 paper

NM_014272.5

p.A1405T

c.4213G>A

5 papers

NM_014272.5

p.G1414S

c.4240G>A

3 papers

NM_014272.5

p.K1357fs

c.4069_4070fs

7 papers

NM_014272.5

p.K1357Fs

c.4070delinsGGACCCAAFs

6 papers

NM_014272.5

p.K1357fs

c.4069_4070fs

3 papers

NM_014272.5

p.K1357insFs

c.4069_4070ins7

2 papers

NM_014272.5

p.E1422K

c.4264G>A

2 papers

NM_014272.5

p.N1353fs

c.4057_4058fs

1 paper

NM_014272.5

p.S1324P

c.3970T>C

3 papers

NM_014272.5

p.S1316T

c.3946T>A

1 paper

NM_014272.5

p.T1314N

c.3941C>A

1 paper

NM_014272.5

p.T1314A

c.3940A>G