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

2 papers

NM_014272.5

p.A1104del1

c.3310_3312delCGC

Surrounding Variants

1 paper

NM_014272.5

p.A1103_A1104del1

c.3309_3311delGCA

4 papers

NM_014272.5

p.H1101R

c.3302A>G

1 paper

NM_014272.5

p.H1099Q

c.3297C>G

1 paper

NM_014272.5

p.H1099Q

c.3297C>A

1 paper

NM_014272.5

p.P1110P

c.3330C>T

1 paper

NM_014272.5

p.H1099Y

c.3295C>T

1 paper

NM_014272.5

p.P1098L

c.3293C>T

1 paper

NM_014272.5

p.T1095T

c.3285A>G

1 paper

NM_014272.5

p.R1094Q

c.3281G>A

1 paper

NM_014272.5

p.G1090A

c.3269G>C

1 paper

NM_014272.5

p.A1089T

c.3265G>A

1 paper

NM_014272.5

p.Y1078insFs

c.3232_3233insT