Varaico: Literature-Extracted Genetic Variants

Gene:FKBP14
Variant:p.L10W

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.L10W
c.29T>G
Surrounding Variants
1 paper
NM_017946.4
p.L10*
c.29T>A
1 paper
NM_017946.4
p.T11A
c.31A>G
1 paper
NM_017946.4
p.L12delFs
c.35delA
1 paper
NM_017946.4
p.L5insFs
c.14dupT
1 paper
NM_017946.4
p.M1delins
c.3delinsTTTTAGATCCATATTTTAG
1 paper
NM_017946.4
p.G19fs
c.55_56fs
2 papers
NM_017946.4
p.M1R
c.2T>G
1 paper
NM_017946.4
p.M1T
c.2T>C
4 papers
NM_017946.4
p.V14_A20delFs
c.42_60del19
1 paper
NM_017946.4
p.E24delFs
c.72delT
3 papers
NM_017946.4
p.M48K
c.143T>A
2 papers
NM_017946.4
p.Y55Y
c.165C>T
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