Varaico: Literature-Extracted Genetic Variants

Gene:KLHL8
Variant:p.I341V

KLHL8

37 papers

Pfam Domains

BTBaa 57–163UCSCBTB/POZ domain
BACKaa 169–271UCSCBTB And C-terminal Kelch
BACKaa 169–271UCSCBTB And C-terminal Kelch
Kelch_KLHDC2_KLHL20_DRC7aa 291–467UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain
Kelch_1aa 496–541UCSCKelch motif
Kelch_1aa 543–588UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 8

HGNC Alias Symbol

KIAA1378

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020803.5
p.I341V
c.1021A>G
Surrounding Variants
1 paper
NM_020803.5
p.G330D
c.989G>A
1 paper
NM_020803.5
p.V371A
c.1112T>C
1 paper
NM_020803.5
p.P262L
c.785C>T
1 paper
NM_020803.5
p.P242S
c.724C>T
2 papers
NM_020803.5
p.N241H
c.721A>C
1 paper
NM_020803.5
p.W237*
c.711G>A
1 paper
NM_020803.5
p.W237*
c.710G>A
1 paper
NM_020803.5
p.P210L
c.629C>T
1 paper
NM_020803.5
p.I182insFs
c.544_545ins5
1 paper
NM_020803.5
p.R181Q
c.542G>A
1 paper
NM_020803.5
p.K161K
c.483G>A
1 paper
NM_020803.5
p.C87F
c.260G>T
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