Varaico: Literature-Extracted Genetic Variants

Gene:MAMDC4
Variant:p.S427L

MAMDC4

96 papers

Gene Aliases

HGNC Name

MAM domain containing 4

HGNC Alias Symbols

AEGP; DKFZp434M1411; EDTB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_206920.3
p.S427L
c.1280C>T
Surrounding Variants
1 paper
NM_206920.3
p.V426I
c.1276G>A
1 paper
NM_206920.3
p.P408delFs
c.1224delG
1 paper
NM_206920.3
p.P408fs
c.1222_1223fs
1 paper
NM_206920.3
p.E428Splc
c.1283-1G>A
1 paper
NM_206920.3
p.R440Q
c.1319G>A
1 paper
NM_206920.3
p.P397S
c.1189C>T
1 paper
NM_206920.3
p.Y396N
c.1186T>A
1 paper
NM_206920.3
p.R387Q
c.1160G>A
1 paper
NM_206920.3
p.A384T
c.1150G>A
1 paper
NM_206920.3
p.E487E
c.1461G>A
2 papers
NM_206920.3
p.G491Splc
c.1471+1G>A
1 paper
NM_206920.3
p.R378Q
c.1133G>A
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