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.K291T

c.872A>C

Surrounding Variants

1 paper

NM_152393.4

p.A292V

c.875C>T

1 paper

NM_152393.4

p.E296_L302del7

c.886_905del21

1 paper

NM_152393.4

p.A280T

c.838G>A

1 paper

NM_152393.4

p.G279R

c.835G>A

1 paper

NM_152393.4

p.G279R

c.835G>C

1 paper

NM_152393.4

p.G274E

c.821G>A

3 papers

NM_152393.4

p.K273*

c.817A>T

3 papers

NM_152393.4

p.R311S

c.931C>A

1 paper

NM_152393.4

p.R311H

c.932G>A

8 papers

NM_152393.4

p.R311L

c.932G>T

1 paper

NM_152393.4

p.T266N

c.797C>A

1 paper

NM_152393.4

p.R264fs

c.790_791fs