Varaico: Literature-Extracted Genetic Variants

Gene:ERICH6
Variant:p.R347Splc

ERICH6

65 papers

Pfam Domains

FAM194aa 422–625UCSCFAM194 protein

Gene Aliases

HGNC Name

glutamate rich 6

HGNC Previous Symbols

C3orf44; FAM194A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152394.5
p.R347Splc
c.1041-81T>C
Surrounding Variants
1 paper
NM_152394.5
p.R347Splc
c.1041-1G>T
1 paper
NM_152394.5
p.P327L
c.980C>T
1 paper
NM_152394.5
p.I323L
c.967A>C
1 paper
NM_152394.5
p.P317S
c.949C>T
1 paper
NM_152394.5
p.E290Q
c.868G>C
1 paper
NM_152394.5
p.F281insFs
c.841_842insT
1 paper
NM_152394.5
p.F273V
c.817T>G
1 paper
NM_152394.5
p.Q381*
c.1141C>T
1 paper
NM_152394.5
p.P244Q
c.731C>A
1 paper
NM_152394.5
p.P239L
c.716C>T
1 paper
NM_152394.5
p.L235L
c.703C>T
1 paper
NM_152394.5
p.E222_F223Splc
c.666+4A>G
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