Varaico: Literature-Extracted Genetic Variants

Gene:FKBP1A

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
1–12 of 62 variants
3 papers
NM_000801.5
p.V5A
c.14T>C
3 papers
NM_000801.5
p.Q66_M67Splc
c.199-1G>A
2 papers
NM_000801.5
p.K18M
c.53A>T
2 papers
NM_000801.5
p.V24A
c.71T>C
2 papers
NM_000801.5
p.G29Splc
c.86-1G>C
2 papers
NM_000801.5
p.S39C
c.116C>G
2 papers
NM_000801.5
p.E55K
c.163G>A
2 papers
NM_000801.5
p.F100L
c.298T>C
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.E108A
c.323A>C
1 paper
NM_000801.5
p.V3M
c.7G>A
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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."