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

2 papers

NM_152393.4

p.R213C

c.637C>T

Surrounding Variants

1 paper

NM_152393.4

p.A211delFs

c.631delG

1 paper

NM_152393.4

p.P218S

c.652C>T

1 paper

NM_152393.4

p.E208K

c.622G>A

1 paper

NM_152393.4

p.G205S

c.613G>A

1 paper

NM_152393.4

p.E222A

c.665A>C

4 papers

NM_152393.4

p.A202fs

c.604_605fs

9 papers

NM_152393.4

p.W201*

c.603G>A

9 papers

NM_152393.4

p.W201*

c.602G>A

6 papers

NM_152393.4

p.W201L

c.602G>T

2 papers

NM_152393.4

p.R225fs

c.673_674fs

4 papers

NM_152393.4

p.A202delFs

c.604delG

1 paper

NM_152393.4

p.R225insFs

c.674_675insC