Varaico: Literature-Extracted Genetic Variants

KLHL41

68 papers

RefSeq Summary

This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development an...

Pfam Domains

BTBaa 23–130UCSCBTB/POZ domain

BACKaa 135–237UCSCBTB And C-terminal Kelch

Kelch_1aa 387–434UCSCKelch motif

Kelch_1aa 436–482UCSCKelch motif

Kelch_1aa 484–529UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 41

HGNC Previous Symbol

KBTBD10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006063.3

p.R225insFs

c.674_675insC

Surrounding Variants

1 paper

NM_006063.3

p.R225C

c.673C>T

2 papers

NM_006063.3

p.R225fs

c.673_674fs

1 paper

NM_006063.3

p.V236I

c.706G>A

1 paper

NM_006063.3

p.N214fs

c.640_641fs

1 paper

NM_006063.3

p.N214delFs

c.641delA

1 paper

NM_006063.3

p.D240G

c.719A>G

1 paper

NM_006063.3

p.L248F

c.742C>T

1 paper

NM_006063.3

p.Q249fs

c.745_746fs

1 paper

NM_006063.3

p.K250insFs

c.748_749insA

1 paper

NM_006063.3

p.K250_K251insA

c.748_752ins3

1 paper

NM_006063.3

p.K251_I252insTC

c.751_755ins6

1 paper

NM_006063.3

p.E198Q

c.592G>C