Varaico: Literature-Extracted Genetic Variants

Gene:FAM193B
Variant:p.E511V

FAM193B

53 papers

Pfam Domains

FAM193_Caa 846–900UCSCFAM193 family C-terminal

Gene Aliases

HGNC Name

family with sequence similarity 193 member B

HGNC Alias Symbols

KIAA1931; FLJ10404; IRIZIO

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001190946.3
p.E511V
c.1532A>T
Surrounding Variants
3 papers
NM_001190946.3
p.S523F
c.1568C>T
1 paper
NM_001190946.3
p.P542L
c.1625C>T
1 paper
NM_001190946.3
p.L471L
c.1413G>C
2 papers
NM_001190946.3
p.P556A
c.1666C>G
1 paper
NM_001190946.3
p.R466L
c.1397G>T
1 paper
NM_001190946.3
p.R466Q
c.1397G>A
1 paper
NM_001190946.3
p.D465N
c.1393G>A
1 paper
NM_001190946.3
p.E552_A558del0
c.1655_1672del18
1 paper
NM_001190946.3
p.R450G
c.1348A>G
1 paper
NM_001190946.3
p.P573A
c.1717C>G
2 papers
NM_001190946.3
p.P575L
c.1724C>T
1 paper
NM_001190946.3
p.N592S
c.1775A>G
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