Varaico: Literature-Extracted Genetic Variants

Gene:KLHL8
Variant:p.L458V

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.L458V
c.1372C>G
Surrounding Variants
1 paper
NM_020803.5
p.S455P
c.1363T>C
1 paper
NM_020803.5
p.P520R
c.1559C>G
1 paper
NM_020803.5
p.V371A
c.1112T>C
1 paper
NM_020803.5
p.E525G
c.1574A>G
1 paper
NM_020803.5
p.D528G
c.1583A>G
1 paper
NM_020803.5
p.R544_G545ins5
c.1630_1634ins15
1 paper
NM_020803.5
p.G548R
c.1642G>C
1 paper
NM_020803.5
p.G548R
c.1642G>A
1 paper
NM_020803.5
p.E582*
c.1744G>T
1 paper
NM_020803.5
p.T603I
c.1808C>T
1 paper
NM_020803.5
p.T603fs
c.1807_1808fs
1 paper
NM_020803.5
p.T603_S604delFs
c.1807_1810del4
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