Varaico: Literature-Extracted Genetic Variants

Gene:KLHL34

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
1–12 of 59 variants
4 papers
NM_153270.3
p.E329del1
c.985_986delCTC
2 papers
NM_153270.3
p.Q110delFs
c.329delT
2 papers
NM_153270.3
p.L158S
c.473T>C
2 papers
NM_153270.3
p.R281H
c.842G>A
2 papers
NM_153270.3
p.R452C
c.1354C>T
2 papers
NM_153270.3
p.K580Q
c.1738A>C
1 paper
NM_153270.3
p.R23C
c.67C>T
1 paper
NM_153270.3
p.D30N
c.88G>A
1 paper
NM_153270.3
p.I87M
c.261C>G
1 paper
NM_153270.3
p.S93L
c.278C>T
1 paper
NM_153270.3
p.R120C
c.358C>T
1 paper
NM_153270.3
p.R120G
c.358C>G
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