Varaico: Literature-Extracted Genetic Variants

Gene:HEATR6
Variant:p.L585V

HEATR6

161 papers

Pfam Domains

DUF4042aa 418–599UCSCDomain of unknown function (DUF4042)

Gene Aliases

HGNC Name

HEAT repeat containing 6

HGNC Alias Symbols

ABC1; FLJ22087

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022070.5
p.L585V
c.1753C>G
Surrounding Variants
1 paper
NM_022070.5
p.L586F
c.1758G>C
1 paper
NM_022070.5
p.R579C
c.1735C>T
2 papers
NM_022070.5
p.N577S
c.1730A>G
1 paper
NM_022070.5
p.L602F
c.1804C>T
1 paper
NM_022070.5
p.Q604E
c.1810C>G
1 paper
NM_022070.5
p.L601_Q605del0
c.1802_1813del12
1 paper
NM_022070.5
p.G612D
c.1835G>A
1 paper
NM_022070.5
p.P624R
c.1871C>G
1 paper
NM_022070.5
p.A632fs
c.1894_1895fs
2 papers
NM_022070.5
p.E637K
c.1909G>A
1 paper
NM_022070.5
p.S647F
c.1940C>T
1 paper
NM_022070.5
p.P650P
c.1950C>G
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