Varaico: Literature-Extracted Genetic Variants

Gene:FKBP14

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
1–12 of 48 variants
27 papers
NM_017946.4
p.P121insFs
c.362dupC
15 papers
NM_017946.4
p.E122fs
c.364_365fs
4 papers
NM_017946.4
p.V14_A20delFs
c.42_60del19
4 papers
NM_017946.4
p.E122fs
c.364_365fs
4 papers
NM_017946.4
p.E191_D192del1
c.573_575delTCT
4 papers
NM_017946.4
p.E191_D192delFs
c.573_576del4
3 papers
NM_017946.4
p.M48K
c.143T>A
3 papers
NM_017946.4
p.D196G
c.587A>G
2 papers
NM_017946.4
p.M1R
c.2T>G
2 papers
NM_017946.4
p.Y55Y
c.165C>T
2 papers
NM_017946.4
p.R135G
c.403C>G
2 papers
NM_017946.4
p.K166del1
c.496_497delCTT
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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."