Varaico: Literature-Extracted Genetic Variants

Gene:FKBP1A
Variant:p.K53Q

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
1 paper
NM_000801.5
p.K53Q
c.157A>C
Surrounding Variants
1 paper
NM_000801.5
p.K53R
c.158A>G
2 papers
NM_000801.5
p.E55K
c.163G>A
1 paper
NM_000801.5
p.V56A
c.167T>C
1 paper
NM_000801.5
p.I57T
c.170T>C
1 paper
NM_000801.5
p.I57M
c.171C>G
1 paper
NM_000801.5
p.K48R
c.143A>G
1 paper
NM_000801.5
p.R58G
c.172C>G
1 paper
NM_000801.5
p.K48Q
c.142A>C
1 paper
NM_000801.5
p.R58Q
c.173G>A
1 paper
NM_000801.5
p.W60L
c.179G>T
1 paper
NM_000801.5
p.K45R
c.134A>G
1 paper
NM_000801.5
p.K45Q
c.133A>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."