Varaico: Literature-Extracted Genetic Variants

Gene:HEATR6
Variant:p.N809H

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.N809H
c.2425A>C
Surrounding Variants
1 paper
NM_022070.5
p.Y841N
c.2521T>A
1 paper
NM_022070.5
p.F804insFs
c.2411_2412insT
1 paper
NM_022070.5
p.R778T
c.2333G>C
1 paper
NM_022070.5
p.R873Q
c.2618G>A
3 papers
NM_022070.5
p.A877V
c.2630C>T
1 paper
NM_022070.5
p.I888M
c.2664T>G
1 paper
NM_022070.5
p.V889I
c.2665G>A
1 paper
NM_022070.5
p.T893A
c.2677A>G
2 papers
NM_022070.5
p.A917V
c.2750C>T
1 paper
NM_022070.5
p.T948I
c.2843C>T
1 paper
NM_022070.5
p.Q958H
c.2874G>T
1 paper
NM_022070.5
p.Q958H
c.2874G>C
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