Varaico: Literature-Extracted Genetic Variants

Gene:FKBP1A
Variant:p.E108A

FKBP1A

90 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. The prote...

Pfam Domains

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

Gene Aliases

HGNC Name

FKBP prolyl isomerase 1A

HGNC Alias Symbols

FKBP-12; FKBP12; PKC12; PPIASE; FKBP12C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000801.5
p.E108A
c.323A>C
Surrounding Variants
1 paper
NM_000801.5
p.K106E
c.316A>G
1 paper
NM_000801.5
p.L105R
c.314T>G
1 paper
NM_000801.5
p.L105P
c.314T>C
1 paper
NM_000801.5
p.V102A
c.305T>C
1 paper
NM_000801.5
p.D101A
c.302A>C
1 paper
NM_000801.5
p.D101N
c.301G>A
2 papers
NM_000801.5
p.F100L
c.300C>G
2 papers
NM_000801.5
p.F100L
c.300C>A
2 papers
NM_000801.5
p.F100L
c.298T>C
1 paper
NM_000801.5
p.V99A
c.296T>C
1 paper
NM_000801.5
p.V99I
c.295G>A
1 paper
NM_000801.5
p.H88P
c.263A>C
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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."