Varaico: Literature-Extracted Genetic Variants

Gene:FKBP3
Variant:p.E83A

FKBP3

23 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

BTHBaa 6–77UCSCBasic tilted helix bundle domain
FKBP_Caa 121–221UCSCFKBP-type peptidyl-prolyl cis-trans isomerase

Gene Aliases

HGNC Name

FKBP prolyl isomerase 3

HGNC Alias Symbols

FKBP-25; FKBP25

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002013.4
p.E83A
c.248A>C
Surrounding Variants
1 paper
NM_002013.4
p.E83Q
c.247G>C
1 paper
NM_002013.4
p.K73R
c.218A>G
1 paper
NM_002013.4
p.S100P
c.298T>C
1 paper
NM_002013.4
p.E102K
c.304G>A
1 paper
NM_002013.4
p.I47F
c.139A>T
1 paper
NM_002013.4
p.K23M
c.68A>T
1 paper
NM_002013.4
p.K22M
c.65A>T
1 paper
NM_002013.4
p.E18A
c.53A>C
1 paper
NM_002013.4
p.T11A
c.31A>G
1 paper
NM_002013.4
p.V5G
c.14T>G
1 paper
NM_002013.4
p.N123fs
c.367_368fs
1 paper
NM_002013.4
p.N123_P125delFs
c.369_375del7
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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."