Varaico: Literature-Extracted Genetic Variants

Gene:KLHL30

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
1–12 of 66 variants
2 papers
NM_198582.4
p.G49S
c.145G>A
2 papers
NM_198582.4
p.R108H
c.323G>A
2 papers
NM_198582.4
p.A213V
c.638C>T
2 papers
NM_198582.4
p.A322V
c.965C>T
2 papers
NM_198582.4
p.H470H
c.1410C>T
1 paper
NM_198582.4
p.R25C
c.73C>T
1 paper
NM_198582.4
p.K31N
c.93G>C
1 paper
NM_198582.4
p.K31N
c.93G>T
1 paper
NM_198582.4
p.V35I
c.103G>A
1 paper
NM_198582.4
p.A52A
c.156G>A
1 paper
NM_198582.4
p.S54R
c.160A>C
1 paper
NM_198582.4
p.S54R
c.162C>A
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