Varaico: Literature-Extracted Genetic Variants

Gene:MAMDC4

MAMDC4

96 papers

Gene Aliases

HGNC Name

MAM domain containing 4

HGNC Alias Symbols

AEGP; DKFZp434M1411; EDTB

Papers
RefSeq ID
Protein change
DNA change
1–12 of 127 variants
5 papers
NM_206920.3
p.P966L
c.2897C>T
4 papers
NM_206920.3
p.P244T
c.730C>A
4 papers
NM_206920.3
p.W908G
c.2722T>G
4 papers
NM_206920.3
p.R1095W
c.3283C>T
2 papers
NM_206920.3
p.E331K
c.991G>A
2 papers
NM_206920.3
p.S427L
c.1280C>T
2 papers
NM_206920.3
p.G491Splc
c.1471+1G>A
2 papers
NM_206920.3
p.W1014*
c.3041G>A
2 papers
NM_206920.3
p.W1014*
c.3042G>A
2 papers
NM_206920.3
p.P1130L
c.3389C>T
1 paper
NM_206920.3
p.M1K
c.2T>A
1 paper
NM_206920.3
p.M1insFs
c.2_3ins4
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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."