Varaico: Literature-Extracted Genetic Variants

Gene:FKBP2
Variant:p.Q32H

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
Selected Variant
1 paper
NM_004470.4
p.Q32H
c.96G>C
Surrounding Variants
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.E26E
c.78G>A
1 paper
NM_004470.4
p.V39L
c.115G>C
1 paper
NM_004470.4
p.V39L
c.115G>T
1 paper
NM_004470.4
p.A25_G27Fs
c.74_81delinsCCCCGATFs
1 paper
NM_004470.4
p.S46A
c.136T>G
2 papers
NM_004470.4
p.S46_M54del0
c.138_161del24
1 paper
NM_004470.4
p.K48R
c.143A>G
1 paper
NM_004470.4
p.K48N
c.144A>T
1 paper
NM_004470.4
p.G49R
c.145G>A
1 paper
NM_004470.4
p.G49A
c.146G>C
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."