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

1–12 of 153 variants

26 papers

NM_152393.4

p.T506P

c.1516A>C

20 papers

NM_152393.4

p.E528K

c.1582G>A

9 papers

NM_152393.4

p.W201*

c.602G>A

9 papers

NM_152393.4

p.W201*

c.603G>A

9 papers

NM_152393.4

p.N345S

c.1034A>G

8 papers

NM_152393.4

p.R311L

c.932G>T

7 papers

NM_152393.4

p.R500C

c.1498C>T

6 papers

NM_152393.4

p.L86P

c.257T>C

6 papers

NM_152393.4

p.W201L

c.602G>T

6 papers

NM_152393.4

p.H455R

c.1364A>G

6 papers

NM_152393.4

p.E588K

c.1762G>A

6 papers

NM_152393.4

p.C617R

c.1849T>C