Varaico: Literature-Extracted Genetic Variants

Gene:KLHL32

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
1–12 of 42 variants
2 papers
NM_052904.4
p.N129S
c.386A>G
2 papers
NM_052904.4
p.D146G
c.437A>G
2 papers
NM_052904.4
p.R178C
c.532C>T
1 paper
NM_052904.4
p.P2S
c.4C>T
1 paper
NM_052904.4
p.R5C
c.13C>T
1 paper
NM_052904.4
p.Q10*
c.28C>T
1 paper
NM_052904.4
p.E11E
c.33A>G
1 paper
NM_052904.4
p.Q35*
c.103C>T
1 paper
NM_052904.4
p.A61E
c.182C>A
1 paper
NM_052904.4
p.R68_A69Splc
c.204+16753G>A
1 paper
NM_052904.4
p.R68_A69Splc
c.204+26939A>G
1 paper
NM_052904.4
p.S72R
c.214A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."