Varaico: Literature-Extracted Genetic Variants

ADAMTS18

235 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 62–150UCSCReprolysin family propeptide

Reprolysinaa 294–498UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 511–578UCSCADAMTS cysteine-rich domain 2

TSP_1aa 593–643UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 646–748UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 750–861UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 18

HGNC Previous Symbol

ADAMTS21

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_199355.4

p.Y191H

c.571T>C

Surrounding Variants

1 paper

NM_199355.4

p.N190K

c.570C>G

1 paper

NM_199355.4

p.N190K

c.570C>A

1 paper

NM_199355.4

p.Y191C

c.572A>G

1 paper

NM_199355.4

p.S193T

c.577T>A

1 paper

NM_199355.4

p.S193C

c.578C>G

1 paper

NM_199355.4

p.A195S

c.583G>T

1 paper

NM_199355.4

p.A195V

c.584C>T

1 paper

NM_199355.4

p.V201I

c.601G>A

1 paper

NM_199355.4

p.P180T

c.538C>A

3 papers

NM_199355.4

p.L202P

c.605T>C

7 papers

NM_199355.4

p.S179L

c.536C>T

1 paper

NM_199355.4

p.Y203H

c.607T>C