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

1–12 of 87 variants

24 papers

NM_017644.3

p.M1V

c.1A>G

18 papers

NM_017644.3

p.M1T

c.2T>C

17 papers

NM_017644.3

p.M1I

c.3G>T

14 papers

NM_017644.3

p.M1I

c.3G>A

12 papers

NM_017644.3

p.M1L

c.1A>T

8 papers

NM_017644.3

p.R306H

c.917G>A

8 papers

NM_017644.3

p.E350*

c.1048G>T

4 papers

NM_017644.3

p.R8*

c.22A>T

3 papers

NM_017644.3

p.M1R

c.2T>G

3 papers

NM_017644.3

p.M1I

c.3G>C

3 papers

NM_017644.3

p.E355A

c.1064A>C

3 papers

NM_017644.3

p.W387*

c.1160G>A