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.L33L

c.99C>T

Surrounding Variants

5 papers

NM_152393.4

p.D34H

c.100G>C

1 paper

NM_152393.4

p.D34Y

c.100G>T

1 paper

NM_152393.4

p.R38Q

c.113G>A

3 papers

NM_152393.4

p.P45delFs

c.134delC

2 papers

NM_152393.4

p.P45fs

c.133_134fs

4 papers

NM_152393.4

p.Q16*

c.46C>T

1 paper

NM_152393.4

p.L51L

c.153G>T

1 paper

NM_152393.4

p.R12L

c.35G>T

1 paper

NM_152393.4

p.Y57_R61ins1

c.169_183dup15

1 paper

NM_152393.4

p.E9*

c.25G>T

2 papers

NM_152393.4

p.R59P

c.176G>C

1 paper

NM_152393.4

p.R61C

c.181C>T