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

6 papers

NM_152393.4

p.L86P

c.257T>C

Surrounding Variants

1 paper

NM_152393.4

p.Q84insFs

c.251_252insTC

1 paper

NM_152393.4

p.Q84insFs

c.250_251insA

4 papers

NM_152393.4

p.Y90*

c.270C>A

5 papers

NM_152393.4

p.Y90*

c.270C>G

1 paper

NM_152393.4

p.A95T

c.283G>A

2 papers

NM_152393.4

p.E98K

c.292G>A

1 paper

NM_152393.4

p.A99_V101delFs

c.296_302del7

1 paper

NM_152393.4

p.V101M

c.301G>A

1 paper

NM_152393.4

p.G70fs

c.208_209fs

1 paper

NM_152393.4

p.P66R

c.197C>G

1 paper

NM_152393.4

p.A108T

c.322G>A

1 paper

NM_152393.4

p.A108A

c.324A>G