Varaico: Literature-Extracted Genetic Variants

Gene:EFHD2

EFHD2

37 papers

Pfam Domains

AIF-1aa 80–165UCSCAllograft inflammatory factor 1

Gene Aliases

HGNC Name

EF-hand domain family member D2

HGNC Alias Symbol

MGC4342

Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
5 papers
NM_024329.6
p.E116A
c.347A>C
5 papers
NM_024329.6
p.E152A
c.455A>C
4 papers
NM_024329.6
p.D141A
c.422A>C
3 papers
NM_024329.6
p.D105A
c.314A>C
3 papers
NM_024329.6
p.A230V
c.689C>T
2 papers
NM_024329.6
p.A38del1
c.112_113delGCG
2 papers
NM_024329.6
p.F89L
c.265T>C
2 papers
NM_024329.6
p.F89L
c.267C>A
2 papers
NM_024329.6
p.F89L
c.267C>G
2 papers
NM_024329.6
p.N135Y
c.403A>T
2 papers
NM_024329.6
p.S183A
c.547T>G
1 paper
NM_024329.6
p.E26G
c.77A>G
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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."