Varaico: Literature-Extracted Genetic Variants

Gene:KLHL30
Variant:p.H470H

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
2 papers
NM_198582.4
p.H470H
c.1410C>T
Surrounding Variants
1 paper
NM_198582.4
p.I476F
c.1426A>T
1 paper
NM_198582.4
p.G477V
c.1430G>T
1 paper
NM_198582.4
p.N479K
c.1437C>A
1 paper
NM_198582.4
p.D447Splc
c.1339+61C>T
1 paper
NM_198582.4
p.P444T
c.1330C>A
1 paper
NM_198582.4
p.Y434N
c.1300T>A
1 paper
NM_198582.4
p.A431T
c.1291G>A
1 paper
NM_198582.4
p.A418D
c.1253C>A
1 paper
NM_198582.4
p.A418V
c.1253C>T
1 paper
NM_198582.4
p.S416S
c.1248G>A
1 paper
NM_198582.4
p.T399M
c.1196C>T
1 paper
NM_198582.4
p.S394N
c.1181G>A
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