Varaico: Literature-Extracted Genetic Variants

Gene:MCFD2
Variant:p.E103_E104Splc

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
5 papers
NM_139279.6
p.E103_E104Splc
c.309+1G>A
Surrounding Variants
1 paper
NM_139279.6
p.E103_E104Splc
c.309+5G>A
9 papers
NM_139279.6
p.V100D
c.299T>A
1 paper
NM_139279.6
p.E92Q
c.274G>C
1 paper
NM_139279.6
p.G90A
c.269G>C
17 papers
NM_139279.6
p.D89A
c.266A>C
5 papers
NM_139279.6
p.D89N
c.265G>A
6 papers
NM_139279.6
p.D83delFs
c.249delA
1 paper
NM_139279.6
p.D83fs
c.247_248fs
1 paper
NM_139279.6
p.D83fs
c.247_248fs
1 paper
NM_139279.6
p.Y82*
c.246T>G
1 paper
NM_139279.6
p.Y82*
c.246T>A
2 papers
NM_139279.6
p.Q70_Y82delFs
c.210_244del35
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