Varaico: Literature-Extracted Genetic Variants

KLHL24

83 papers

RefSeq Summary

The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which res...

Pfam Domains

BTBaa 56–163UCSCBTB/POZ domain

BACKaa 168–270UCSCBTB And C-terminal Kelch

Kelch_KLHDC2_KLHL20_DRC7aa 306–509UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Kelch_1aa 535–571UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 24

HGNC Alias Symbols

DRE1; FLJ20059; KRIP6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017644.3

p.C281Y

c.842G>A

Surrounding Variants

1 paper

NM_017644.3

p.Y282Y

c.846T>C

1 paper

NM_017644.3

p.S278delFs

c.832delT

1 paper

NM_017644.3

p.H292D

c.874C>G

8 papers

NM_017644.3

p.R306H

c.917G>A

1 paper

NM_017644.3

p.H249H

c.747C>T

1 paper

NM_017644.3

p.D242Y

c.724G>T

2 papers

NM_017644.3

p.R235H

c.704G>A

1 paper

NM_017644.3

p.L221F

c.661C>T

1 paper

NM_017644.3

p.D210_S218del9

c.628_653del27

2 papers

NM_017644.3

p.D197A

c.590A>C

1 paper

NM_017644.3

p.A175V

c.524C>T

1 paper

NM_017644.3

p.R173C

c.517C>T