Varaico: Literature-Extracted Genetic Variants

Gene:EFHB
Variant:p.L105S

EFHB

62 papers

Pfam Domains

EF-hand_7aa 563–626UCSCEF-hand domain pair
EF-hand_7aa 563–626UCSCEF-hand domain pair
EF-hand_EFHB_Caa 750–824UCSCEFHB C-terminal EF-hand domain

Gene Aliases

HGNC Name

EF-hand domain family member B

HGNC Alias Symbol

FLJ25200

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144715.4
p.L105S
c.314T>C
Surrounding Variants
1 paper
NM_144715.4
p.G110R
c.328G>C
1 paper
NM_144715.4
p.G110R
c.328G>A
2 papers
NM_144715.4
p.G99V
c.296G>T
1 paper
NM_144715.4
p.E112A
c.335A>C
1 paper
NM_144715.4
p.D92G
c.275A>G
1 paper
NM_144715.4
p.G90R
c.268G>C
1 paper
NM_144715.4
p.G90R
c.268G>A
1 paper
NM_144715.4
p.R124W
c.370C>T
1 paper
NM_144715.4
p.E75K
c.223G>A
1 paper
NM_144715.4
p.E71fs
c.211_212fs
1 paper
NM_144715.4
p.L70_E71insFs
c.210_211ins13
1 paper
NM_144715.4
p.T62K
c.185C>A
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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."