Varaico: Literature-Extracted Genetic Variants

Gene:MCFD2
Variant:p.E116A

MCFD2

73 papers

RefSeq Summary

This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (lectin mannose binding protein 1; also known as ERGIC-53...

Pfam Domains

EF-hand_7aa 69–146UCSCEF-hand domain pair

Gene Aliases

HGNC Name

multiple coagulation factor deficiency 2, ER cargo receptor complex subunit

HGNC Alias Symbols

F5F8D; LMAN1IP; SDNSF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_139279.6
p.E116A
c.347A>C
Surrounding Variants
1 paper
NM_139279.6
p.M112I
c.336G>T
1 paper
NM_139279.6
p.M112I
c.336G>C
1 paper
NM_139279.6
p.M112I
c.336G>A
1 paper
NM_139279.6
p.M112V
c.334A>G
1 paper
NM_139279.6
p.D122N
c.364G>A
17 papers
NM_139279.6
p.D122V
c.365A>T
1 paper
NM_139279.6
p.D122A
c.365A>C
2 papers
NM_139279.6
p.L125_R126insFs
c.375_376insGA
1 paper
NM_139279.6
p.D128A
c.383A>C
21 papers
NM_139279.6
p.D129E
c.387C>G
21 papers
NM_139279.6
p.D129E
c.387C>A
12 papers
NM_139279.6
p.Y135N
c.403T>A
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