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.E657K

c.1969G>A

Surrounding Variants

1 paper

NM_199355.4

p.L648_C655delFs

c.1944_1965del22

1 paper

NM_199355.4

p.Q654R

c.1961A>G

1 paper

NM_199355.4

p.S660C

c.1978A>T

1 paper

NM_199355.4

p.S660N

c.1979G>A

1 paper

NM_199355.4

p.Q653*

c.1957C>T

1 paper

NM_199355.4

p.P662R

c.1985C>G

1 paper

NM_199355.4

p.R651L

c.1952G>T

4 papers

NM_199355.4

p.R651Q

c.1952G>A

1 paper

NM_199355.4

p.F650L

c.1950T>G

1 paper

NM_199355.4

p.F650L

c.1950T>A

2 papers

NM_199355.4

p.F650C

c.1949T>G

1 paper

NM_199355.4

p.F650L

c.1948T>C