Varaico: Literature-Extracted Genetic Variants

Gene:KLHL32
Variant:p.S72R

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
1 paper
NM_052904.4
p.S72R
c.214A>C
Surrounding Variants
1 paper
NM_052904.4
p.E77G
c.230A>G
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