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.Y453F

c.1358A>T

Surrounding Variants

1 paper

NM_152393.4

p.V452A

c.1355T>C

6 papers

NM_152393.4

p.H455R

c.1364A>G

1 paper

NM_152393.4

p.Y450Y

c.1350C>T

1 paper

NM_152393.4

p.M461L

c.1381A>C

1 paper

NM_152393.4

p.M461L

c.1381A>T

1 paper

NM_152393.4

p.L463F

c.1387C>T

5 papers

NM_152393.4

p.G443S

c.1327G>A

1 paper

NM_152393.4

p.Y465*

c.1395C>A

1 paper

NM_152393.4

p.V466A

c.1397T>C

3 papers

NM_152393.4

p.G469S

c.1405G>A

5 papers

NM_152393.4

p.G469C

c.1405G>T

1 paper

NM_152393.4

p.G471delFs

c.1411delG