Varaico: Literature-Extracted Genetic Variants

Gene:MAMDC2

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
1–12 of 57 variants
5 papers
NM_153267.5
p.K355del1
c.1063_1064delAAA
3 papers
NM_153267.5
p.W116R
c.346T>A
3 papers
NM_153267.5
p.W116R
c.346T>C
3 papers
NM_153267.5
p.S222P
c.664T>C
2 papers
NM_153267.5
p.L21P
c.62T>C
2 papers
NM_153267.5
p.R371W
c.1111C>T
1 paper
NM_153267.5
p.S70R
c.208A>C
1 paper
NM_153267.5
p.S70R
c.210T>A
1 paper
NM_153267.5
p.S70R
c.210T>G
1 paper
NM_153267.5
p.E76K
c.226G>A
1 paper
NM_153267.5
p.S79R
c.235A>C
1 paper
NM_153267.5
p.S79R
c.237C>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."