Varaico: Literature-Extracted Genetic Variants

Gene:ADAM10
Variant:p.P169R

ADAM10

266 papers

RefSeq Summary

Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many protein...

Pfam Domains

Reprolysin_2aa 239–446UCSCMetallo-peptidase family M12B Reprolysin-like
Disintegrinaa 466–546UCSCDisintegrin
ADAM10_Cys-richaa 591–646UCSCADAM10, cysteine-rich domain

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 10

HGNC Alias Symbols

kuz; MADM; HsT18717; CD156C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001110.4
p.P169R
c.506C>G
Surrounding Variants
1 paper
NM_001110.4
p.Q170E
c.508C>G
2 papers
NM_001110.4
p.G168D
c.503G>A
42 papers
NM_001110.4
p.Q170H
c.510G>T
42 papers
NM_001110.4
p.Q170H
c.510G>C
2 papers
NM_001110.4
p.G168S
c.502G>A
3 papers
NM_001110.4
p.Y167*
c.501C>G
3 papers
NM_001110.4
p.Y167*
c.501C>A
1 paper
NM_001110.4
p.Y167C
c.500A>G
1 paper
NM_001110.4
p.G172S
c.514G>A
1 paper
NM_001110.4
p.G172V
c.515G>T
1 paper
NM_001110.4
p.G172delFs
c.515delC
1 paper
NM_001110.4
p.C173Y
c.518G>A
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."