Varaico: Literature-Extracted Genetic Variants

Gene:FKBP14
Variant:p.R135G

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
2 papers
NM_017946.4
p.R135G
c.403C>G
Surrounding Variants
1 paper
NM_017946.4
p.N136K
c.408T>A
1 paper
NM_017946.4
p.H141Y
c.421C>T
1 paper
NM_017946.4
p.L125L
c.375G>A
4 papers
NM_017946.4
p.E122fs
c.364_365fs
1 paper
NM_017946.4
p.D148H
c.442G>C
15 papers
NM_017946.4
p.E122fs
c.364_365fs
27 papers
NM_017946.4
p.P121insFs
c.362dupC
1 paper
NM_017946.4
p.P121fs
c.361_362fs
1 paper
NM_017946.4
p.D152N
c.454G>A
1 paper
NM_017946.4
p.G117Splc
c.350-1172A>G
1 paper
NM_017946.4
p.E114G
c.341A>G
1 paper
NM_017946.4
p.P107T
c.319C>A
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