Varaico: Literature-Extracted Genetic Variants

Gene:HEATR6

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
1–12 of 110 variants
3 papers
NM_022070.5
p.A877V
c.2630C>T
2 papers
NM_022070.5
p.A71V
c.212C>T
2 papers
NM_022070.5
p.L171delFs
c.511delA
2 papers
NM_022070.5
p.Y293N
c.877T>A
2 papers
NM_022070.5
p.R420C
c.1258C>T
2 papers
NM_022070.5
p.N577S
c.1730A>G
2 papers
NM_022070.5
p.E637K
c.1909G>A
2 papers
NM_022070.5
p.P726S
c.2176C>T
2 papers
NM_022070.5
p.A917V
c.2750C>T
1 paper
NM_022070.5
p.M1V
c.1A>G
1 paper
NM_022070.5
p.E17D
c.51G>T
1 paper
NM_022070.5
p.E17D
c.51G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."