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

1–12 of 179 variants

10 papers

NM_014272.5

p.S214P

c.640T>C

7 papers

NM_014272.5

p.K1357Fs

c.4070delinsGGACCCAAFs

6 papers

NM_014272.5

p.T307M

c.920C>T

6 papers

NM_014272.5

p.K1357fs

c.4069_4070fs

5 papers

NM_014272.5

p.L1292P

c.3875T>C

5 papers

NM_014272.5

p.G1414S

c.4240G>A

4 papers

NM_014272.5

p.H1101R

c.3302A>G

4 papers

NM_014272.5

p.L1293P

c.3878T>C

4 papers

NM_014272.5

p.V1305G

c.3914T>G

3 papers

NM_014272.5

p.P593S

c.1777C>T

3 papers

NM_014272.5

p.S1175P

c.3523T>C

3 papers

NM_014272.5

p.S1316T

c.3946T>A