Varaico: Literature-Extracted Genetic Variants

Gene:FAM47E
Variant:p.R166fs

FAM47E

32 papers

Pfam Domains

FAM47aa 1–226UCSCFAM47 family
FAM47aa 1–226UCSCFAM47 family

Gene Aliases

HGNC Name

family with sequence similarity 47 member E

HGNC Alias Symbols

FLJ42946; LOC100129583

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001136570.3
p.R166fs
c.496_497fs
Surrounding Variants
1 paper
NM_001136570.3
p.T165P
c.493A>C
1 paper
NM_001136570.3
p.P187Splc
c.560+1G>C
1 paper
NM_001136570.3
p.A196T
c.586G>A
1 paper
NM_001136570.3
p.H206Y
c.616C>T
1 paper
NM_001136570.3
p.R217H
c.650G>A
1 paper
NM_001136570.3
p.P138T
c.412C>A
1 paper
NM_001136570.3
p.L129F
c.385C>T
1 paper
NM_001136570.3
p.R90K
c.269G>A
1 paper
NM_001136570.3
p.V46I
c.136G>A
1 paper
NM_001136570.3
p.Q44*
c.130C>T
2 papers
NM_001136570.3
p.G33R
c.97G>A
2 papers
NM_001136570.3
p.G33R
c.97G>C
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