Varaico: Literature-Extracted Genetic Variants

Gene:FKBPL
Variant:p.R235Q

FKBPL

39 papers

RefSeq Summary

The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The en...

Pfam Domains

TPR_16aa 214–285UCSCTetratricopeptide repeat
TPR_1aa 286–319UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

FKBP prolyl isomerase like

HGNC Alias Symbols

DIR1; NG7; WISp39

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022110.4
p.R235Q
c.704G>A
Surrounding Variants
1 paper
NM_022110.4
p.R238G
c.712C>G
1 paper
NM_022110.4
p.R222Q
c.665G>A
1 paper
NM_022110.4
p.S198F
c.593C>T
1 paper
NM_022110.4
p.R277delFs
c.829delG
1 paper
NM_022110.4
p.T193S
c.578C>G
1 paper
NM_022110.4
p.R277fs
c.829_830fs
1 paper
NM_022110.4
p.T193S
c.577A>T
1 paper
NM_022110.4
p.E282*
c.844G>T
1 paper
NM_022110.4
p.L175delFs
c.525delA
1 paper
NM_022110.4
p.E303D
c.909A>T
1 paper
NM_022110.4
p.E303D
c.909A>C
1 paper
NM_022110.4
p.A307S
c.919G>T
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