Varaico: Literature-Extracted Genetic Variants

Gene:FKBPL
Variant:p.N28S

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
3 papers
NM_022110.4
p.N28S
c.83A>G
Surrounding Variants
1 paper
NM_022110.4
p.Q37*
c.109C>T
1 paper
NM_022110.4
p.Q19Q
c.57A>G
1 paper
NM_022110.4
p.R40Q
c.119G>A
3 papers
NM_022110.4
p.T46R
c.137C>G
1 paper
NM_022110.4
p.E50*
c.148G>T
1 paper
NM_022110.4
p.S77_S80ins1
c.229_240dup12
1 paper
NM_022110.4
p.S83L
c.248C>T
1 paper
NM_022110.4
p.A90T
c.268G>A
1 paper
NM_022110.4
p.S94F
c.281C>T
1 paper
NM_022110.4
p.K107*
c.319A>T
1 paper
NM_022110.4
p.V109I
c.325G>A
1 paper
NM_022110.4
p.R111R
c.333T>C
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