Varaico: Literature-Extracted Genetic Variants

Gene:MAMDC2
Variant:p.R371W

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
2 papers
NM_153267.5
p.R371W
c.1111C>T
Surrounding Variants
1 paper
NM_153267.5
p.K366I
c.1097A>T
5 papers
NM_153267.5
p.K355del1
c.1063_1064delAAA
1 paper
NM_153267.5
p.T387R
c.1160C>G
1 paper
NM_153267.5
p.I443M
c.1329C>G
1 paper
NM_153267.5
p.A457T
c.1369G>A
1 paper
NM_153267.5
p.K468_V469Splc
c.1404+7C>T
1 paper
NM_153267.5
p.C327*
c.981C>A
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