Varaico: Literature-Extracted Genetic Variants

Gene:MCFD2
Variant:p.L16P

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.L16P
c.47T>C
Surrounding Variants
1 paper
NM_139279.6
p.W17insFs
c.50_51insC
1 paper
NM_139279.6
p.C20R
c.58T>C
1 paper
NM_139279.6
p.L12insFs
c.34_35insC
1 paper
NM_139279.6
p.A21T
c.61G>A
2 papers
NM_139279.6
p.F11_L12insFs
c.33_34ins4
1 paper
NM_139279.6
p.P22S
c.64C>T
1 paper
NM_139279.6
p.A24T
c.70G>A
1 paper
NM_139279.6
p.R8S
c.24A>T
3 papers
NM_139279.6
p.R8delFs
c.23delC
1 paper
NM_139279.6
p.R25insFs
c.74_75ins5
1 paper
NM_139279.6
p.R25fs
c.73_74fs
2 papers
NM_139279.6
p.L6delFs
c.17delA
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