Varaico: Literature-Extracted Genetic Variants

ADAMTS17

179 papers

RefSeq Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a prop...

Pfam Domains

Pep_M12B_propepaa 36–132UCSCReprolysin family propeptide

Reprolysinaa 337–452UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 466–533UCSCADAMTS cysteine-rich domain 2

TSP_1aa 547–597UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 618–699UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 706–783UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 17

HGNC Alias Symbols

FLJ32769; FLJ16363

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_139057.4

p.N1094S

c.3281A>G

Surrounding Variants

1 paper

NM_139057.4

p.P1093L

c.3278C>T

1 paper

NM_139057.4

p.P1091L

c.3272C>T

2 papers

NM_139057.4

p.R1089C

c.3265C>T

1 paper

NM_139057.4

p.R1071G

c.3211C>G

1 paper

NM_139057.4

p.V1060V

c.3180C>T

1 paper

NM_139057.4

p.R1041C

c.3121C>T

1 paper

NM_139057.4

p.N1035K

c.3105C>G

1 paper

NM_139057.4

p.N1035K

c.3105C>A

1 paper

NM_139057.4

p.Q1025Q

c.3075G>A

1 paper

NM_139057.4

p.C1023_Q1025del0

c.3069_3074del6

4 papers

NM_139057.4

p.C1023Y

c.3068G>A

1 paper

NM_139057.4

p.C1011C

c.3033C>T