Varaico: Literature-Extracted Genetic Variants

Gene:KLHL36
Variant:p.W556*

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
Selected Variant
1 paper
NM_024731.4
p.W556*
c.1668G>A
Surrounding Variants
1 paper
NM_024731.4
p.W556*
c.1667G>A
1 paper
NM_024731.4
p.G553S
c.1657G>A
1 paper
NM_024731.4
p.P582S
c.1744C>T
1 paper
NM_024731.4
p.V529M
c.1585G>A
1 paper
NM_024731.4
p.G500fs
c.1498_1499fs
1 paper
NM_024731.4
p.G499R
c.1495G>A
1 paper
NM_024731.4
p.G499R
c.1495G>C
1 paper
NM_024731.4
p.G500delFs
c.1499delG
1 paper
NM_024731.4
p.R483H
c.1448G>A
1 paper
NM_024731.4
p.R469L
c.1406G>T
1 paper
NM_024731.4
p.D453N
c.1357G>A
1 paper
NM_024731.4
p.H452L
c.1355A>T
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