Varaico: Literature-Extracted Genetic Variants

Gene:FAM47E
Variant:p.A196T

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.A196T
c.586G>A
Surrounding Variants
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.D229N
c.685G>A
2 papers
NM_001136570.3
p.D229H
c.685G>C
1 paper
NM_001136570.3
p.A249V
c.746C>T
1 paper
NM_001136570.3
p.K263Q
c.787A>C
5 papers
NM_001136570.3
p.E273K
c.817G>A
1 paper
NM_001136570.3
p.Q278H
c.834G>C
1 paper
NM_001136570.3
p.P187Splc
c.560+1G>C
1 paper
NM_001136570.3
p.R166fs
c.496_497fs
1 paper
NM_001136570.3
p.T165P
c.493A>C
1 paper
NM_001136570.3
p.W297*
c.890G>A
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