Varaico: Literature-Extracted Genetic Variants

Gene:AAR2
Variant:p.E117_L118insFs

AAR2

25 papers

RefSeq Summary

This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [provided by RefSeq, De...

Pfam Domains

AAR2_1staa 17–150UCSCAAR2 N-terminal domain
AAR2aa 208–364UCSCAAR2 C-terminal repeat region

Gene Aliases

HGNC Name

AAR2 splicing factor

HGNC Previous Symbol

C20orf4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001271874.2
p.E117_L118insFs
c.351_352insC
Surrounding Variants
1 paper
NM_001271874.2
p.E117K
c.349G>A
1 paper
NM_001271874.2
p.M111I
c.333G>C
1 paper
NM_001271874.2
p.P150S
c.448C>T
1 paper
NM_001271874.2
p.F78delFs
c.234delC
1 paper
NM_001271874.2
p.F78fs
c.232_233fs
1 paper
NM_001271874.2
p.F77delFs
c.231delC
1 paper
NM_001271874.2
p.F77fs
c.229_230fs
1 paper
NM_001271874.2
p.S159F
c.476C>T
1 paper
NM_001271874.2
p.K171K
c.513G>A
1 paper
NM_001271874.2
p.S62F
c.185C>T
2 papers
NM_001271874.2
p.V174M
c.520G>A
1 paper
NM_001271874.2
p.G175A
c.524G>C
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