Varaico: Literature-Extracted Genetic Variants

Gene:FKBP1A
Variant:p.V24A

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.V24A
c.71T>C
Surrounding Variants
1 paper
NM_000801.5
p.V25A
c.74T>C
1 paper
NM_000801.5
p.T22S
c.65C>G
1 paper
NM_000801.5
p.T22A
c.64A>G
1 paper
NM_000801.5
p.Y27D
c.79T>G
1 paper
NM_000801.5
p.T28A
c.82A>G
2 papers
NM_000801.5
p.K18M
c.53A>T
1 paper
NM_000801.5
p.P17insFs
c.50dupC
1 paper
NM_000801.5
p.R14S
c.40C>A
1 paper
NM_000801.5
p.I8V
c.22A>G
1 paper
NM_000801.5
p.T7A
c.19A>G
3 papers
NM_000801.5
p.V5A
c.14T>C
1 paper
NM_000801.5
p.Q4Q
c.12G>A
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