Varaico: Literature-Extracted Genetic Variants

Gene:KLHL36
Variant:p.A261V

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.A261V
c.782C>T
Surrounding Variants
1 paper
NM_024731.4
p.C263C
c.789C>T
1 paper
NM_024731.4
p.T288M
c.863C>T
1 paper
NM_024731.4
p.E306K
c.916G>A
1 paper
NM_024731.4
p.R307W
c.919C>T
1 paper
NM_024731.4
p.R307Q
c.920G>A
1 paper
NM_024731.4
p.L211L
c.631C>T
1 paper
NM_024731.4
p.A320T
c.958G>A
1 paper
NM_024731.4
p.L197P
c.590T>C
1 paper
NM_024731.4
p.T329M
c.986C>T
1 paper
NM_024731.4
p.P330L
c.989C>T
1 paper
NM_024731.4
p.T181T
c.543G>C
1 paper
NM_024731.4
p.G169D
c.506G>A
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