Varaico: Literature-Extracted Genetic Variants

Gene:KLHL38
Variant:p.K508E

KLHL38

53 papers

Pfam Domains

BTBaa 24–131UCSCBTB/POZ domain
BACKaa 136–237UCSCBTB And C-terminal Kelch
Kelch_1aa 321–370UCSCKelch motif
Beta-prop_ATRN-LZTR1aa 366–568UCSCAttractin/LZTR1 beta-propeller

Gene Aliases

HGNC Name

kelch like family member 38

HGNC Alias Symbol

C8ORFK36

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001081675.3
p.K508E
c.1522A>G
Surrounding Variants
1 paper
NM_001081675.3
p.A505A
c.1515G>A
3 papers
NM_001081675.3
p.C504Y
c.1511G>A
1 paper
NM_001081675.3
p.G527G
c.1581C>T
1 paper
NM_001081675.3
p.G486Splc
c.1457-2A>T
1 paper
NM_001081675.3
p.E549G
c.1646A>G
1 paper
NM_001081675.3
p.T550M
c.1649C>T
1 paper
NM_001081675.3
p.P560S
c.1678C>T
2 papers
NM_001081675.3
p.R576H
c.1727G>A
1 paper
NM_001081675.3
p.V476fs
c.1426_1427fs
1 paper
NM_001081675.3
p.V476delFs
c.1426delC
1 paper
NM_001081675.3
p.A472D
c.1415C>A
1 paper
NM_001081675.3
p.E463*
c.1387G>T
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