Varaico: Literature-Extracted Genetic Variants

Gene:AAR2
Variant:p.E31*

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.E31*
c.91G>T
Surrounding Variants
1 paper
NM_001271874.2
p.M26T
c.77T>C
1 paper
NM_001271874.2
p.A19S
c.55G>T
1 paper
NM_001271874.2
p.K49*
c.145A>T
1 paper
NM_001271874.2
p.I51I
c.153C>T
1 paper
NM_001271874.2
p.P52H
c.155C>A
1 paper
NM_001271874.2
p.E9K
c.25G>A
1 paper
NM_001271874.2
p.S62F
c.185C>T
1 paper
NM_001271874.2
p.F77fs
c.229_230fs
1 paper
NM_001271874.2
p.F77delFs
c.231delC
1 paper
NM_001271874.2
p.F78fs
c.232_233fs
1 paper
NM_001271874.2
p.F78delFs
c.234delC
1 paper
NM_001271874.2
p.M111I
c.333G>C
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