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

1 paper

NM_199355.4

p.P559P

c.1677C>G

Surrounding Variants

1 paper

NM_199355.4

p.E554Q

c.1660G>C

1 paper

NM_199355.4

p.C541F

c.1622G>T

1 paper

NM_199355.4

p.D539N

c.1615G>A

1 paper

NM_199355.4

p.K538_D539Splc

c.1615-7A>T

1 paper

NM_199355.4

p.R573P

c.1718G>C

1 paper

NM_199355.4

p.G575V

c.1724G>T

5 papers

NM_199355.4

p.C577W

c.1731C>G

1 paper

NM_199355.4

p.V578I

c.1732G>A

1 paper

NM_199355.4

p.G584R

c.1750G>C

1 paper

NM_199355.4

p.G584R

c.1750G>A

2 papers

NM_199355.4

p.R586Q

c.1757G>A

1 paper

NM_199355.4

p.G590S

c.1768G>A