Varaico: Literature-Extracted Genetic Variants

Gene:EFHD2
Variant:p.S183A

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
Selected Variant
2 papers
NM_024329.6
p.S183A
c.547T>G
Surrounding Variants
1 paper
NM_024329.6
p.E195D
c.585G>C
1 paper
NM_024329.6
p.E195D
c.585G>T
1 paper
NM_024329.6
p.R158H
c.473G>A
1 paper
NM_024329.6
p.K197_V198Splc
c.591+196C>T
5 papers
NM_024329.6
p.E152A
c.455A>C
1 paper
NM_024329.6
p.R151Q
c.452G>A
4 papers
NM_024329.6
p.D141A
c.422A>C
1 paper
NM_024329.6
p.D141N
c.421G>A
1 paper
NM_024329.6
p.K138insFs
c.412_413insC
2 papers
NM_024329.6
p.N135Y
c.403A>T
5 papers
NM_024329.6
p.E116A
c.347A>C
1 paper
NM_024329.6
p.I112I
c.336C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."