Varaico: Literature-Extracted Genetic Variants

Gene:KLHL34
Variant:p.R452C

KLHL34

60 papers

Pfam Domains

BTBaa 19–126UCSCBTB/POZ domain
BACKaa 131–238UCSCBTB And C-terminal Kelch
Kelch_KLHDC2_KLHL20_DRC7aa 324–533UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

kelch like family member 34

HGNC Alias Symbols

FLJ34960; RP11-450P7.3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_153270.3
p.R452C
c.1354C>T
Surrounding Variants
1 paper
NM_153270.3
p.R452H
c.1355G>A
1 paper
NM_153270.3
p.V439L
c.1315G>T
1 paper
NM_153270.3
p.V439L
c.1315G>C
1 paper
NM_153270.3
p.H466_A467insFs
c.1398_1399insT
1 paper
NM_153270.3
p.V430L
c.1288G>C
1 paper
NM_153270.3
p.G486S
c.1456G>A
1 paper
NM_153270.3
p.A416V
c.1247C>T
1 paper
NM_153270.3
p.A414A
c.1242G>A
1 paper
NM_153270.3
p.R401C
c.1201C>T
1 paper
NM_153270.3
p.D387D
c.1161C>T
1 paper
NM_153270.3
p.A527V
c.1580C>T
1 paper
NM_153270.3
p.D549N
c.1645G>A
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