Varaico: Literature-Extracted Genetic Variants

Gene:ADAM8
Variant:p.L33W

ADAM8

177 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 30–112UCSCReprolysin family propeptide
Reprolysinaa 200–400UCSCReprolysin (M12B) family zinc metalloprotease
Disintegrinaa 417–489UCSCDisintegrin
ADAM_CRaa 494–569UCSCADAM cysteine-rich

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 8

HGNC Alias Symbols

CD156; MS2; CD156A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001109.5
p.L33W
c.98T>G
Surrounding Variants
1 paper
NM_001109.5
p.L33M
c.97T>A
4 papers
NM_001109.5
p.W35R
c.103T>C
4 papers
NM_001109.5
p.W35R
c.103T>A
1 paper
NM_001109.5
p.G39S
c.115G>A
1 paper
NM_001109.5
p.M26I
c.78G>T
1 paper
NM_001109.5
p.M26I
c.78G>C
1 paper
NM_001109.5
p.M26I
c.78G>A
1 paper
NM_001109.5
p.V42I
c.124G>A
1 paper
NM_001109.5
p.A24insFs
c.71_72ins28
2 papers
NM_001109.5
p.R21W
c.61C>T
3 papers
NM_001109.5
p.L46L
c.136C>T
1 paper
NM_001109.5
p.S20G
c.58A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."