Varaico: Literature-Extracted Genetic Variants

Gene:ERICH6B
Variant:p.L146M

ERICH6B

68 papers

Pfam Domains

FAM194aa 472–673UCSCFAM194 protein

Gene Aliases

HGNC Name

glutamate rich 6B

HGNC Previous Symbol

FAM194B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_182542.3
p.L146M
c.436C>A
Surrounding Variants
3 papers
NM_182542.3
p.E135_G141del7
c.403_422del21
1 paper
NM_182542.3
p.D150V
c.449A>T
2 papers
NM_182542.3
p.G141E
c.422G>A
7 papers
NM_182542.3
p.H133_Y139del0
c.398_415del18
1 paper
NM_182542.3
p.H133_Y139del7
c.397_416del21
1 paper
NM_182542.3
p.Y127_Y139del0
c.381_416del36
11 papers
NM_182542.3
p.Y139H
c.415T>C
4 papers
NM_182542.3
p.E138G
c.413A>G
1 paper
NM_182542.3
p.E138K
c.412G>A
1 paper
NM_182542.3
p.V155V
c.465A>T
2 papers
NM_182542.3
p.E136K
c.406G>A
1 paper
NM_182542.3
p.E135fs
c.403_404fs
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