Varaico: Literature-Extracted Genetic Variants

Gene:KLHL30
Variant:p.K31N

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.K31N
c.93G>C
Surrounding Variants
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.R25C
c.73C>T
2 papers
NM_198582.4
p.G49S
c.145G>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
1 paper
NM_198582.4
p.S54R
c.162C>G
1 paper
NM_198582.4
p.A67T
c.199G>A
1 paper
NM_198582.4
p.E68K
c.202G>A
1 paper
NM_198582.4
p.S71F
c.212C>T
1 paper
NM_198582.4
p.R73H
c.218G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."