Varaico: Literature-Extracted Genetic Variants

Gene:ALYREF
Variant:p.R27Q

ALYREF

213 papers

RefSeq Summary

The protein encoded by this gene is a heat stable, nuclear protein and functions as a molecular chaperone. It is thought to regulate dimerization, DNA binding, and transcriptional activity of basic re...

Pfam Domains

RRM_1aa 115–184UCSCRNA recognition motif
FoP_duplicationaa 195–264UCSCC-terminal duplication domain of Friend of PRMT1

Gene Aliases

HGNC Name

Aly/REF export factor

HGNC Previous Symbol

THOC4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005782.4
p.R27Q
c.80G>A
Surrounding Variants
1 paper
NM_005782.4
p.R27R
c.79C>A
1 paper
NM_005782.4
p.G31insFs
c.91_92insC
1 paper
NM_005782.4
p.L22Q
c.65T>A
1 paper
NM_005782.4
p.R34W
c.100C>T
1 paper
NM_005782.4
p.R34Q
c.101G>A
1 paper
NM_005782.4
p.R36insFs
c.108dupC
1 paper
NM_005782.4
p.L16L
c.46C>T
1 paper
NM_005782.4
p.R38del1
c.112_114delCCG
1 paper
NM_005782.4
p.G40S
c.118G>A
1 paper
NM_005782.4
p.G40A
c.119G>C
1 paper
NM_005782.4
p.D13delFs
c.38delT
1 paper
NM_005782.4
p.Q42E
c.124C>G
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