Varaico: Literature-Extracted Genetic Variants

Gene:FKBP14
Variant:p.E114G

FKBP14

59 papers

RefSeq Summary

The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where ...

Pfam Domains

FKBP_Caa 38–132UCSCFKBP-type peptidyl-prolyl cis-trans isomerase

Gene Aliases

HGNC Name

FKBP prolyl isomerase 14

HGNC Alias Symbols

FLJ20731; FKBP22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017946.4
p.E114G
c.341A>G
Surrounding Variants
1 paper
NM_017946.4
p.P107T
c.319C>A
1 paper
NM_017946.4
p.K100insFs
c.299_300insA
1 paper
NM_017946.4
p.K93insFs
c.277dupA
1 paper
NM_017946.4
p.E83A
c.248A>C
1 paper
NM_017946.4
p.E83Q
c.247G>C
1 paper
NM_017946.4
p.L79fs
c.235_236fs
1 paper
NM_017946.4
p.T78_L79insFs
c.234_235ins4
1 paper
NM_017946.4
p.G117Splc
c.350-1172A>G
27 papers
NM_017946.4
p.P121insFs
c.362dupC
1 paper
NM_017946.4
p.P121fs
c.361_362fs
15 papers
NM_017946.4
p.E122fs
c.364_365fs
4 papers
NM_017946.4
p.E122fs
c.364_365fs
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