Varaico: Literature-Extracted Genetic Variants

Gene:FAM47E
Variant:p.W297*

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.W297*
c.890G>A
Surrounding Variants
1 paper
NM_001136570.3
p.W297*
c.891G>A
1 paper
NM_001136570.3
p.A354V
c.1061C>T
1 paper
NM_001136570.3
p.T366M
c.1097C>T
1 paper
NM_001136570.3
p.R368H
c.1103G>A
1 paper
NM_001136570.3
p.E378K
c.1132G>A
1 paper
NM_001136570.3
p.R381C
c.1141C>T
1 paper
NM_001136570.3
p.Q278H
c.834G>C
5 papers
NM_001136570.3
p.E273K
c.817G>A
1 paper
NM_001136570.3
p.K263Q
c.787A>C
1 paper
NM_001136570.3
p.A249V
c.746C>T
1 paper
NM_001136570.3
p.D229N
c.685G>A
2 papers
NM_001136570.3
p.D229H
c.685G>C
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