Varaico: Literature-Extracted Genetic Variants

Gene:FKBP14
Variant:p.E191_D192delFs

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
4 papers
NM_017946.4
p.E191_D192delFs
c.573_576del4
Surrounding Variants
4 papers
NM_017946.4
p.E191_D192del1
c.573_575delTCT
2 papers
NM_017946.4
p.K190del1
c.568_570delTTT
3 papers
NM_017946.4
p.D196G
c.587A>G
1 paper
NM_017946.4
p.D186delFs
c.558delA
2 papers
NM_017946.4
p.V175insFs
c.523dupG
2 papers
NM_017946.4
p.V175fs
c.523_524fs
2 papers
NM_017946.4
p.*212Y
c.636G>C
1 paper
NM_017946.4
p.G172D
c.515G>A
1 paper
NM_017946.4
p.F168L
c.504T>A
2 papers
NM_017946.4
p.K166del1
c.496_497delCTT
1 paper
NM_017946.4
p.K161_L164del0
c.483_491del9
1 paper
NM_017946.4
p.Y163H
c.487T>C
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