Varaico: Literature-Extracted Genetic Variants

Gene:MCFD2

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
1–12 of 67 variants
21 papers
NM_139279.6
p.D129E
c.387C>G
21 papers
NM_139279.6
p.D129E
c.387C>A
21 papers
NM_139279.6
p.I136T
c.407T>C
17 papers
NM_139279.6
p.D89A
c.266A>C
17 papers
NM_139279.6
p.D122V
c.365A>T
16 papers
NM_139279.6
p.E50Splc
c.149+5G>A
16 papers
NM_139279.6
p.D81Y
c.241G>T
12 papers
NM_139279.6
p.Y135N
c.403T>A
11 papers
NM_139279.6
p.D81H
c.241G>C
9 papers
NM_139279.6
p.V100D
c.299T>A
7 papers
NM_139279.6
p.M1T
c.2T>C
6 papers
NM_139279.6
p.D83delFs
c.249delA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."