Varaico: Literature-Extracted Genetic Variants

Gene:ERI1
Variant:p.I305L

ERI1

45 papers

Pfam Domains

SAPaa 75–111UCSCSAP domain
RNase_Taa 131–306UCSCExonuclease

Gene Aliases

HGNC Name

exoribonuclease 1

HGNC Previous Symbol

THEX1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_153332.4
p.I305L
c.913A>C
Surrounding Variants
2 papers
NM_153332.4
p.I305L
c.913A>T
1 paper
NM_153332.4
p.S299P
c.895T>C
1 paper
NM_153332.4
p.D298A
c.893A>C
1 paper
NM_153332.4
p.D298G
c.893A>G
1 paper
NM_153332.4
p.G290fs
c.868_869fs
1 paper
NM_153332.4
p.D289Y
c.865G>T
1 paper
NM_153332.4
p.T275S
c.824C>G
1 paper
NM_153332.4
p.T275S
c.823A>T
1 paper
NM_153332.4
p.*350del1
c.1048_1049delTAA
2 papers
NM_153332.4
p.*350fs
c.1048_1049fs
1 paper
NM_153332.4
p.K269_V270Splc
c.807+10C>A
1 paper
NM_153332.4
p.N266H
c.796A>C
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