Varaico: Literature-Extracted Genetic Variants

Gene:EFR3B
Variant:p.R589C

EFR3B

53 papers

Pfam Domains

EFR3_ARMaa 47–143UCSCEFR3, armadillo repeat

Gene Aliases

HGNC Name

EFR3 homolog B

HGNC Previous Symbol

KIAA0953

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014971.2
p.R589C
c.1765C>T
Surrounding Variants
1 paper
NM_014971.2
p.H615H
c.1845C>T
1 paper
NM_014971.2
p.E560del1
c.1678_1680delGAG
1 paper
NM_014971.2
p.A558delFs
c.1674delT
1 paper
NM_014971.2
p.A558fs
c.1672_1673fs
1 paper
NM_014971.2
p.I555fs
c.1663_1664fs
1 paper
NM_014971.2
p.S554fs
c.1660_1661fs
2 papers
NM_014971.2
p.I555_L557delFs
c.1663_1669del7
1 paper
NM_014971.2
p.Q540*
c.1618C>T
1 paper
NM_014971.2
p.K520_H521Splc
c.1561-14G>A
1 paper
NM_014971.2
p.I620V
c.1858A>G
1 paper
NM_014971.2
p.K520R
c.1559A>G
1 paper
NM_014971.2
p.K519R
c.1556A>G
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