Varaico: Literature-Extracted Genetic Variants

Gene:ADAM9
Variant:p.D166H

ADAM9

183 papers

RefSeq Summary

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and ha...

Pfam Domains

Pep_M12B_propepaa 44–121UCSCReprolysin family propeptide
Reprolysinaa 212–406UCSCReprolysin (M12B) family zinc metalloprotease
Disintegrinaa 423–496UCSCDisintegrin
ADAM_CRaa 501–615UCSCADAM cysteine-rich

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 9

HGNC Previous Symbol

CORD9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003816.3
p.D166H
c.496G>C
Surrounding Variants
1 paper
NM_003816.3
p.D166_Y169del0
c.498_506del9
2 papers
NM_003816.3
p.R164*
c.490C>T
1 paper
NM_003816.3
p.E159_H160insTAA
c.475_479ins9
1 paper
NM_003816.3
p.Q153K
c.457C>A
1 paper
NM_003816.3
p.A145V
c.434C>T
1 paper
NM_003816.3
p.E190K
c.568G>A
1 paper
NM_003816.3
p.E193V
c.578A>T
2 papers
NM_003816.3
p.R137Splc
c.411-8A>G
1 paper
NM_003816.3
p.T198A
c.592A>G
3 papers
NM_003816.3
p.L200L
c.600A>C
1 paper
NM_003816.3
p.R202*
c.604C>T
1 paper
NM_003816.3
p.R137S
c.411A>C
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