Varaico: Literature-Extracted Genetic Variants

Gene:MAMDC2
Variant:p.S91L

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.S91L
c.272C>T
Surrounding Variants
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.S98R
c.292A>C
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.S79R
c.237C>A
1 paper
NM_153267.5
p.S79R
c.237C>G
1 paper
NM_153267.5
p.S79R
c.235A>C
1 paper
NM_153267.5
p.E76K
c.226G>A
1 paper
NM_153267.5
p.S70R
c.210T>A
1 paper
NM_153267.5
p.S70R
c.210T>G
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