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

1 paper

NM_139057.4

p.S429S

c.1287C>A

Surrounding Variants

3 papers

NM_139057.4

p.R433*

c.1297C>T

1 paper

NM_139057.4

p.D435Y

c.1303G>T

1 paper

NM_139057.4

p.F439L

c.1315T>C

1 paper

NM_139057.4

p.F439L

c.1317C>G

1 paper

NM_139057.4

p.F439L

c.1317C>A

1 paper

NM_139057.4

p.W417*

c.1251G>A

2 papers

NM_139057.4

p.K441Splc

c.1322+2T>C

1 paper

NM_139057.4

p.W417*

c.1250G>A

1 paper

NM_139057.4

p.D400_H403insFs

c.1200_1209dup10

1 paper

NM_139057.4

p.D400N

c.1198G>A

1 paper

NM_139057.4

p.G396G

c.1188C>T

1 paper

NM_139057.4

p.K441Splc

c.1323-11G>A