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.L523fs

c.1567_1568fs

Surrounding Variants

1 paper

NM_152393.4

p.L523_S525delFs

c.1567_1574del8

20 papers

NM_152393.4

p.E528K

c.1582G>A

1 paper

NM_152393.4

p.I532V

c.1594A>G

1 paper

NM_152393.4

p.D534N

c.1600G>A

1 paper

NM_152393.4

p.K536Splc

c.1607+3A>T

1 paper

NM_152393.4

p.H508Y

c.1522C>T

26 papers

NM_152393.4

p.T506P

c.1516A>C

4 papers

NM_152393.4

p.A505P

c.1513G>C

1 paper

NM_152393.4

p.L502F

c.1504C>T

7 papers

NM_152393.4

p.R500C

c.1498C>T

1 paper

NM_152393.4

p.P495S

c.1483C>T

1 paper

NM_152393.4

p.D484N

c.1450G>A