Varaico: Literature-Extracted Genetic Variants

Gene:KLHL30
Variant:p.R176*

KLHL30

54 papers

Pfam Domains

BTBaa 23–130UCSCBTB/POZ domain
BACKaa 135–237UCSCBTB And C-terminal Kelch
Kelch_KLHDC2_KLHL20_DRC7aa 318–507UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

kelch like family member 30

HGNC Alias Symbol

FLJ43374

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198582.4
p.R176*
c.526C>T
Surrounding Variants
1 paper
NM_198582.4
p.L179M
c.535C>A
1 paper
NM_198582.4
p.D169D
c.507C>T
1 paper
NM_198582.4
p.R167H
c.500G>A
1 paper
NM_198582.4
p.V204M
c.610G>A
1 paper
NM_198582.4
p.R205C
c.613C>T
1 paper
NM_198582.4
p.Q144L
c.431A>T
1 paper
NM_198582.4
p.R211Q
c.632G>A
2 papers
NM_198582.4
p.A213V
c.638C>T
1 paper
NM_198582.4
p.H214Q
c.642C>A
1 paper
NM_198582.4
p.V227M
c.679G>A
1 paper
NM_198582.4
p.R124C
c.370C>T
1 paper
NM_198582.4
p.T109delFs
c.325delA
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