Varaico: Literature-Extracted Genetic Variants

Gene:ERICH6
Variant:p.V48E

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.V48E
c.143T>A
Surrounding Variants
3 papers
NM_152394.5
p.E46_E53ins2
c.138_158dup21
4 papers
NM_152394.5
p.E53E
c.159G>A
3 papers
NM_152394.5
p.E53ins7
c.158_159ins21
1 paper
NM_152394.5
p.E54V
c.161A>T
1 paper
NM_152394.5
p.E42K
c.124G>A
1 paper
NM_152394.5
p.V55insFs
c.163_164insAG
1 paper
NM_152394.5
p.V55ins2
c.164_165ins6
4 papers
NM_152394.5
p.V56E
c.167T>A
2 papers
NM_152394.5
p.E39E
c.117A>G
1 paper
NM_152394.5
p.V34E
c.101T>A
1 paper
NM_152394.5
p.V34ins7
c.100_101ins21
1 paper
NM_152394.5
p.E63delFs
c.187delC
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