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

5 papers

NM_152393.4

p.K536Splc

c.1608-1G>A

Surrounding Variants

5 papers

NM_152393.4

p.A538P

c.1612G>C

1 paper

NM_152393.4

p.A538V

c.1613C>T

1 paper

NM_152393.4

p.P544T

c.1630C>A

1 paper

NM_152393.4

p.L559insFs

c.1675dupC

1 paper

NM_152393.4

p.T570T

c.1710G>A

6 papers

NM_152393.4

p.E588K

c.1762G>A

6 papers

NM_152393.4

p.C617R

c.1849T>C

1 paper

NM_152393.4

p.K536Splc

c.1607+3A>T

1 paper

NM_152393.4

p.D534N

c.1600G>A

1 paper

NM_152393.4

p.I532V

c.1594A>G

20 papers

NM_152393.4

p.E528K

c.1582G>A

1 paper

NM_152393.4

p.L523fs

c.1567_1568fs