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

1 paper

NM_006063.3

p.S153delins

c.459delinsACTC

Surrounding Variants

1 paper

NM_006063.3

p.A151T

c.451G>A

1 paper

NM_006063.3

p.D146A

c.437A>C

1 paper

NM_006063.3

p.G142delFs

c.424delG

1 paper

NM_006063.3

p.C135fs

c.403_404fs

1 paper

NM_006063.3

p.E194del1

c.580_581delGAA

1 paper

NM_006063.3

p.Q114H

c.342G>C

1 paper

NM_006063.3

p.Q114H

c.342G>T

1 paper

NM_006063.3

p.E193G

c.578A>G

1 paper

NM_006063.3

p.A110fs

c.328_329fs

1 paper

NM_006063.3

p.E198Q

c.592G>C

1 paper

NM_006063.3

p.A110_S111delFs

c.328_332del5

1 paper

NM_006063.3

p.N214delFs

c.641delA