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.T1189N

c.3566C>A

Surrounding Variants

3 papers

NM_014272.5

p.S1175P

c.3523T>C

1 paper

NM_014272.5

p.A1166T

c.3496G>A

2 papers

NM_014272.5

p.L1232L

c.3696G>T

1 paper

NM_014272.5

p.S1238P

c.3712T>C

1 paper

NM_014272.5

p.P1245T

c.3733C>A

1 paper

NM_014272.5

p.W1133L

c.3398G>T

1 paper

NM_014272.5

p.T1265I

c.3794C>T

1 paper

NM_014272.5

p.P1110P

c.3330C>T

1 paper

NM_014272.5

p.P1270S

c.3808C>T

1 paper

NM_014272.5

p.A1271V

c.3812C>T

1 paper

NM_014272.5

p.E1273G

c.3818A>G

2 papers

NM_014272.5

p.A1104del1

c.3310_3312delCGC