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.Q122fs

c.364_365fs

Surrounding Variants

1 paper

NM_017644.3

p.Q122_Y123insFs

c.366_367ins4

1 paper

NM_017644.3

p.L121_Q122delFs

c.363_366del4

1 paper

NM_017644.3

p.L121fs

c.361_362fs

1 paper

NM_017644.3

p.Y123F

c.368A>T

1 paper

NM_017644.3

p.V124F

c.370G>T

1 paper

NM_017644.3

p.C119R

c.355T>C

1 paper

NM_017644.3

p.M117V

c.349A>G

1 paper

NM_017644.3

p.K128_V129del1

c.383_385delAGG

1 paper

NM_017644.3

p.I112I

c.336T>C

1 paper

NM_017644.3

p.E104K

c.310G>A

1 paper

NM_017644.3

p.E101K

c.301G>A

1 paper

NM_017644.3

p.C96F

c.287G>T