Varaico: Literature-Extracted Genetic Variants

Gene:ALYREF
Variant:p.A127P

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.A127P
c.379G>C
Surrounding Variants
1 paper
NM_005782.4
p.A127S
c.379G>T
1 paper
NM_005782.4
p.S125delFs
c.374delG
1 paper
NM_005782.4
p.F122Y
c.365T>A
1 paper
NM_005782.4
p.F122V
c.364T>G
1 paper
NM_005782.4
p.L120L
c.360G>A
1 paper
NM_005782.4
p.N119D
c.355A>G
2 papers
NM_005782.4
p.L116L
c.348G>C
1 paper
NM_005782.4
p.G112_K114del3
c.334_341del9
2 papers
NM_005782.4
p.Q95*
c.283C>T
1 paper
NM_005782.4
p.R86_P87Splc
c.259-4T>C
1 paper
NM_005782.4
p.R86_P87Splc
c.258+37G>C
2 papers
NM_005782.4
p.G77D
c.230G>A
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