Varaico: Literature-Extracted Genetic Variants

Gene:HEATR6
Variant:p.V94D

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.V94D
c.281T>A
Surrounding Variants
1 paper
NM_022070.5
p.N91H
c.271A>C
1 paper
NM_022070.5
p.Q90R
c.269A>G
1 paper
NM_022070.5
p.L100L
c.300T>G
1 paper
NM_022070.5
p.R107T
c.320G>C
1 paper
NM_022070.5
p.V80F
c.238G>T
1 paper
NM_022070.5
p.D113G
c.338A>G
1 paper
NM_022070.5
p.S132C
c.394A>T
2 papers
NM_022070.5
p.A71V
c.212C>T
1 paper
NM_022070.5
p.S65T
c.194G>C
1 paper
NM_022070.5
p.L59P
c.176T>C
1 paper
NM_022070.5
p.D43D
c.129T>C
1 paper
NM_022070.5
p.C38insFs
c.112_113insA
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