Varaico: Literature-Extracted Genetic Variants

Gene:KLHL32
Variant:p.N129S

KLHL32

38 papers

Pfam Domains

Kelch_1aa 19–66UCSCKelch motif
BTBaa 32–139UCSCBTB/POZ domain
BTBaa 32–139UCSCBTB/POZ domain
BACKaa 144–245UCSCBTB And C-terminal Kelch
BACKaa 144–245UCSCBTB And C-terminal Kelch
BACKaa 144–245UCSCBTB And C-terminal Kelch

Gene Aliases

HGNC Name

kelch like family member 32

HGNC Previous Symbols

BKLHD5; KIAA1900

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_052904.4
p.N129S
c.386A>G
Surrounding Variants
1 paper
NM_052904.4
p.L125L
c.375G>A
1 paper
NM_052904.4
p.I136L
c.406A>C
1 paper
NM_052904.4
p.A118V
c.353C>T
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