Varaico: Literature-Extracted Genetic Variants

Gene:MCFD2
Variant:p.E50Splc

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.E50Splc
c.149+1G>A
Surrounding Variants
2 papers
NM_139279.6
p.E50Splc
c.149+1G>C
16 papers
NM_139279.6
p.E50Splc
c.149+5G>A
1 paper
NM_139279.6
p.T45I
c.134C>T
1 paper
NM_139279.6
p.M39fs
c.115_116fs
1 paper
NM_139279.6
p.A31_S38insFs
c.91_112dup22
3 papers
NM_139279.6
p.Q35delFs
c.103delG
2 papers
NM_139279.6
p.A30_A31insFs
c.90_91insG
2 papers
NM_139279.6
p.A30insFs
c.89_90insG
1 paper
NM_139279.6
p.P29insFs
c.85_86insG
1 paper
NM_139279.6
p.E28K
c.82G>A
1 paper
NM_139279.6
p.R25fs
c.73_74fs
1 paper
NM_139279.6
p.R25insFs
c.74_75ins5
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