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

6 papers

NM_199355.4

p.L769I

c.2305C>A

Surrounding Variants

1 paper

NM_199355.4

p.I770F

c.2308A>T

1 paper

NM_199355.4

p.V767delFs

c.2299delC

2 papers

NM_199355.4

p.A774S

c.2320G>T

2 papers

NM_199355.4

p.A774T

c.2320G>A

1 paper

NM_199355.4

p.A774V

c.2321C>T

1 paper

NM_199355.4

p.R775*

c.2323C>T

1 paper

NM_199355.4

p.E778Q

c.2332G>C

1 paper

NM_199355.4

p.S785F

c.2354C>T

1 paper

NM_199355.4

p.S785delFs

c.2353delA

1 paper

NM_199355.4

p.S785fs

c.2353_2354fs

1 paper

NM_199355.4

p.S787G

c.2359A>G

2 papers

NM_199355.4

p.R792*

c.2374C>T