Varaico: Literature-Extracted Genetic Variants

Gene:KLHL36

KLHL36

43 papers

Pfam Domains

BTBaa 36–143UCSCBTB/POZ domain
BACKaa 148–250UCSCBTB And C-terminal Kelch
Kelch_1aa 334–384UCSCKelch motif
Kelch_1aa 386–431UCSCKelch motif
Kelch_1aa 386–431UCSCKelch motif
Kelch_KLHDC2_KLHL20_DRC7aa 436–595UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

kelch like family member 36

HGNC Previous Symbol

C16orf44

Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
2 papers
NM_024731.4
p.A438V
c.1313C>T
1 paper
NM_024731.4
p.R40H
c.119G>A
1 paper
NM_024731.4
p.D53N
c.157G>A
1 paper
NM_024731.4
p.R80L
c.239G>T
1 paper
NM_024731.4
p.G107R
c.319G>A
1 paper
NM_024731.4
p.E108fs
c.322_323fs
1 paper
NM_024731.4
p.V119I
c.355G>A
1 paper
NM_024731.4
p.E121V
c.362A>T
1 paper
NM_024731.4
p.Q141*
c.421C>T
1 paper
NM_024731.4
p.E145K
c.433G>A
1 paper
NM_024731.4
p.G169D
c.506G>A
1 paper
NM_024731.4
p.T181T
c.543G>C
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