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.C537S

c.1609T>A

Surrounding Variants

3 papers

NM_017644.3

p.C537S

c.1610G>C

3 papers

NM_017644.3

p.E535K

c.1603G>A

1 paper

NM_017644.3

p.R553L

c.1658G>T

1 paper

NM_017644.3

p.R553R

c.1659G>T

1 paper

NM_017644.3

p.N555fs

c.1663_1664fs

1 paper

NM_017644.3

p.D566N

c.1696G>A

1 paper

NM_017644.3

p.T573_G574delFs

c.1719_1720delAG

1 paper

NM_017644.3

p.V575fs

c.1723_1724fs

3 papers

NM_017644.3

p.Y584C

c.1751A>G

1 paper

NM_017644.3

p.H585Y

c.1753C>T

1 paper

NM_017644.3

p.H585insFs

c.1755dupT

1 paper

NM_017644.3

p.Y505*

c.1515T>A