Varaico: Literature-Extracted Genetic Variants

Gene:HEATR6
Variant:p.Y442*

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.Y442*
c.1326C>A
Surrounding Variants
1 paper
NM_022070.5
p.Y442*
c.1326C>G
1 paper
NM_022070.5
p.V438D
c.1313T>A
1 paper
NM_022070.5
p.V438fs
c.1312_1313fs
1 paper
NM_022070.5
p.D449G
c.1346A>G
1 paper
NM_022070.5
p.T450M
c.1349C>T
1 paper
NM_022070.5
p.L424F
c.1272A>T
2 papers
NM_022070.5
p.R420C
c.1258C>T
1 paper
NM_022070.5
p.Q416*
c.1246C>T
1 paper
NM_022070.5
p.A404D
c.1211C>A
1 paper
NM_022070.5
p.D400N
c.1198G>A
1 paper
NM_022070.5
p.R393W
c.1177A>T
1 paper
NM_022070.5
p.V351M
c.1051G>A
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