Varaico: Literature-Extracted Genetic Variants

Gene:ERICH5
Variant:p.L276P

ERICH5

23 papers

Pfam Domains

Glu-rich_5aa 28–374UCSCGlutamate-rich protein 5

Gene Aliases

HGNC Name

glutamate rich 5

HGNC Previous Symbol

C8orf47

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173549.3
p.L276P
c.827T>C
Surrounding Variants
1 paper
NM_173549.3
p.M296I
c.888G>A
1 paper
NM_173549.3
p.M296I
c.888G>C
1 paper
NM_173549.3
p.M296I
c.888G>T
1 paper
NM_173549.3
p.A247P
c.739G>C
2 papers
NM_173549.3
p.Q246*
c.736C>T
1 paper
NM_173549.3
p.R313*
c.937C>T
1 paper
NM_173549.3
p.V315I
c.943G>A
1 paper
NM_173549.3
p.A317A
c.951A>T
1 paper
NM_173549.3
p.S227S
c.681T>A
1 paper
NM_173549.3
p.T220A
c.658A>G
1 paper
NM_173549.3
p.R335H
c.1004G>A
1 paper
NM_173549.3
p.Q214fs
c.640_641fs
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