Varaico: Literature-Extracted Genetic Variants

Gene:MAMDC2
Variant:p.W116R

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
3 papers
NM_153267.5
p.W116R
c.346T>C
Surrounding Variants
3 papers
NM_153267.5
p.W116R
c.346T>A
1 paper
NM_153267.5
p.K119delFs
c.355delA
1 paper
NM_153267.5
p.N134insFs
c.401dupA
1 paper
NM_153267.5
p.S98R
c.294C>A
1 paper
NM_153267.5
p.S98R
c.294C>G
1 paper
NM_153267.5
p.N134fs
c.400_401fs
1 paper
NM_153267.5
p.S98R
c.292A>C
1 paper
NM_153267.5
p.S91L
c.272C>T
1 paper
NM_153267.5
p.S90F
c.269C>T
1 paper
NM_153267.5
p.T88I
c.263C>T
1 paper
NM_153267.5
p.I87T
c.260T>C
1 paper
NM_153267.5
p.S79R
c.237C>A
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