Varaico: Literature-Extracted Genetic Variants

Gene:MAMDC2
Variant:p.A289A

MAMDC2

52 papers

Pfam Domains

MAMaa 26–168UCSCMAM domain, meprin/A5/mu
MAMaa 170–328UCSCMAM domain, meprin/A5/mu
MAMaa 342–497UCSCMAM domain, meprin/A5/mu
MAMaa 509–665UCSCMAM domain, meprin/A5/mu

Gene Aliases

HGNC Name

MAM domain containing 2

HGNC Alias Symbol

MGC21981

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153267.5
p.A289A
c.867G>A
Surrounding Variants
1 paper
NM_153267.5
p.S294N
c.881G>A
1 paper
NM_153267.5
p.Y272Y
c.816C>T
3 papers
NM_153267.5
p.S222P
c.664T>C
1 paper
NM_153267.5
p.G215G
c.645C>T
1 paper
NM_153267.5
p.C327*
c.981C>A
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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."