Varaico: Literature-Extracted Genetic Variants

Gene:FKBP2

FKBP2

85 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 42–134UCSCFKBP-type peptidyl-prolyl cis-trans isomerase

Gene Aliases

HGNC Name

FKBP prolyl isomerase 2

HGNC Alias Symbols

FKBP-13; FKBP13; PPIase

Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
2 papers
NM_004470.4
p.S46_M54del0
c.138_161del24
1 paper
NM_004470.4
p.S4T
c.11G>C
1 paper
NM_004470.4
p.R7Q
c.20G>A
1 paper
NM_004470.4
p.L12P
c.35T>C
1 paper
NM_004470.4
p.L12L
c.36G>A
1 paper
NM_004470.4
p.A25_G27Fs
c.74_81delinsCCCCGATFs
1 paper
NM_004470.4
p.E26E
c.78G>A
1 paper
NM_004470.4
p.Q32H
c.96G>C
1 paper
NM_004470.4
p.Q32H
c.96G>T
1 paper
NM_004470.4
p.V35V
c.105C>T
1 paper
NM_004470.4
p.V39L
c.115G>C
1 paper
NM_004470.4
p.V39L
c.115G>T
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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."