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.I181delFs

c.543delC

Surrounding Variants

2 papers

NM_152393.4

p.S182fs

c.544_545fs

1 paper

NM_152393.4

p.E189G

c.566A>G

1 paper

NM_152393.4

p.S173L

c.518C>T

2 papers

NM_152393.4

p.L172P

c.515T>C

5 papers

NM_152393.4

p.V194E

c.581T>A

1 paper

NM_152393.4

p.D166H

c.496G>C

4 papers

NM_152393.4

p.A202delFs

c.604delG

9 papers

NM_152393.4

p.W201*

c.602G>A

6 papers

NM_152393.4

p.W201L

c.602G>T

9 papers

NM_152393.4

p.W201*

c.603G>A

4 papers

NM_152393.4

p.A202fs

c.604_605fs

1 paper

NM_152393.4

p.A158fs

c.472_473fs