Varaico: Literature-Extracted Genetic Variants

Gene:AAR2
Variant:p.G175A

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.G175A
c.524G>C
Surrounding Variants
2 papers
NM_001271874.2
p.V174M
c.520G>A
1 paper
NM_001271874.2
p.L178V
c.532C>G
1 paper
NM_001271874.2
p.K171K
c.513G>A
1 paper
NM_001271874.2
p.C181S
c.541T>A
1 paper
NM_001271874.2
p.C181S
c.542G>C
1 paper
NM_001271874.2
p.C185W
c.555C>G
1 paper
NM_001271874.2
p.S159F
c.476C>T
1 paper
NM_001271874.2
p.P150S
c.448C>T
1 paper
NM_001271874.2
p.K227Q
c.679A>C
1 paper
NM_001271874.2
p.E117_L118insFs
c.351_352insC
1 paper
NM_001271874.2
p.E117K
c.349G>A
1 paper
NM_001271874.2
p.M111I
c.333G>C
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