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

3 papers

NM_017644.3

p.E355A

c.1064A>C

Surrounding Variants

8 papers

NM_017644.3

p.E350*

c.1048G>T

1 paper

NM_017644.3

p.N363_L366del4

c.1087_1097del12

1 paper

NM_017644.3

p.L366_V367ins4

c.1096_1100ins12

1 paper

NM_017644.3

p.R323_G325del0

c.969_974del6

1 paper

NM_017644.3

p.Q383_N385del3

c.1147_1154del9

3 papers

NM_017644.3

p.W387*

c.1160G>A

3 papers

NM_017644.3

p.W387*

c.1161G>A

1 paper

NM_017644.3

p.W398*

c.1193G>A

1 paper

NM_017644.3

p.W398*

c.1194G>A

1 paper

NM_017644.3

p.V424I

c.1270G>A

1 paper

NM_017644.3

p.E425K

c.1273G>A

1 paper

NM_017644.3

p.E425Q

c.1273G>C