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.P248S

c.742C>T

Surrounding Variants

1 paper

NM_152393.4

p.L250_L251insA

c.748_752ins3

1 paper

NM_152393.4

p.R245H

c.734G>A

1 paper

NM_152393.4

p.L251_R252insTC

c.751_755ins6

1 paper

NM_152393.4

p.K253N

c.759G>C

1 paper

NM_152393.4

p.K253N

c.759G>T

1 paper

NM_152393.4

p.D259G

c.776A>G

1 paper

NM_152393.4

p.H261H

c.783C>T

2 papers

NM_152393.4

p.R264delFs

c.790delC

1 paper

NM_152393.4

p.R264fs

c.790_791fs

1 paper

NM_152393.4

p.T266N

c.797C>A

1 paper

NM_152393.4

p.R227H

c.680G>A

1 paper

NM_152393.4

p.C226S

c.677G>C