Varaico: Literature-Extracted Genetic Variants

Gene:KLHL30
Variant:p.P312P

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.P312P
c.936C>T
Surrounding Variants
1 paper
NM_198582.4
p.G318delFs
c.952_953delGG
2 papers
NM_198582.4
p.A322V
c.965C>T
1 paper
NM_198582.4
p.K303Splc
c.908-1G>C
1 paper
NM_198582.4
p.N325del1
c.973_975delAAC
1 paper
NM_198582.4
p.T337T
c.1011A>C
1 paper
NM_198582.4
p.T344I
c.1031C>T
1 paper
NM_198582.4
p.S300I
c.899G>T
1 paper
NM_198582.4
p.F295F
c.885T>C
1 paper
NM_198582.4
p.G293R
c.877G>A
1 paper
NM_198582.4
p.G293R
c.877G>C
1 paper
NM_198582.4
p.P260L
c.779C>T
1 paper
NM_198582.4
p.E391D
c.1173G>C
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