Varaico: Literature-Extracted Genetic Variants

Gene:FKBP1B

FKBP1B

52 papers

RefSeq Summary

The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This enco...

Pfam Domains

FKBP_Caa 1–76UCSCFKBP-type peptidyl-prolyl cis-trans isomerase
FKBP_Caa 13–105UCSCFKBP-type peptidyl-prolyl cis-trans isomerase

Gene Aliases

HGNC Name

FKBP prolyl isomerase 1B

HGNC Previous Symbol

FKBP1L

Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
2 papers
NM_004116.5
p.I5T
c.14T>C
1 paper
NM_004116.5
p.M1K
c.2T>A
1 paper
NM_004116.5
p.C23S
c.67T>A
1 paper
NM_004116.5
p.C23S
c.68G>C
1 paper
NM_004116.5
p.V25_Y27Fs
c.74_81delinsCCCCGATFs
1 paper
NM_004116.5
p.G29Splc
c.86-2A>G
1 paper
NM_004116.5
p.N44K
c.132C>A
1 paper
NM_004116.5
p.N44K
c.132C>G
1 paper
NM_004116.5
p.K45fs
c.133_134fs
1 paper
NM_004116.5
p.P46delFs
c.136delC
1 paper
NM_004116.5
p.F47_E55del0
c.140_163del24
1 paper
NM_004116.5
p.K48fs
c.142_143fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."