Varaico: Literature-Extracted Genetic Variants

KLHL40

142 papers

RefSeq Summary

This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved acr...

Pfam Domains

BTBaa 23–128UCSCBTB/POZ domain

BACKaa 133–239UCSCBTB And C-terminal Kelch

Kelch_KLHDC2_KLHL20_DRC7aa 407–603UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

kelch like family member 40

HGNC Previous Symbol

KBTBD5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_152393.4

p.M322I

c.966G>T

Surrounding Variants

1 paper

NM_152393.4

p.M322I

c.966G>A

1 paper

NM_152393.4

p.M322I

c.966G>C

1 paper

NM_152393.4

p.I323S

c.968T>G

1 paper

NM_152393.4

p.P333A

c.997C>G

1 paper

NM_152393.4

p.R311H

c.932G>A

8 papers

NM_152393.4

p.R311L

c.932G>T

3 papers

NM_152393.4

p.R311S

c.931C>A

1 paper

NM_152393.4

p.E337insFs

c.1010_1011insA

9 papers

NM_152393.4

p.N345S

c.1034A>G

1 paper

NM_152393.4

p.E296_L302del7

c.886_905del21

1 paper

NM_152393.4

p.A292V

c.875C>T

1 paper

NM_152393.4

p.K291T

c.872A>C