Varaico: Literature-Extracted Genetic Variants

Gene:ADAM10
Variant:p.R291H

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
3 papers
NM_001110.4
p.R291H
c.872G>A
Surrounding Variants
1 paper
NM_001110.4
p.R291C
c.871C>T
1 paper
NM_001110.4
p.F292I
c.874T>A
1 paper
NM_001110.4
p.F290S
c.869T>C
1 paper
NM_001110.4
p.P293A
c.877C>G
1 paper
NM_001110.4
p.N294S
c.881A>G
1 paper
NM_001110.4
p.N294T
c.881A>C
1 paper
NM_001110.4
p.I295V
c.883A>G
1 paper
NM_001110.4
p.T287R
c.860C>G
1 paper
NM_001110.4
p.T287P
c.859A>C
1 paper
NM_001110.4
p.P286L
c.857C>T
1 paper
NM_001110.4
p.P286S
c.856C>T
1 paper
NM_001110.4
p.V297M
c.889G>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."