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.K570Splc

c.1710-14T>A

Surrounding Variants

1 paper

NM_006063.3

p.Y571C

c.1712A>G

1 paper

NM_006063.3

p.E572A

c.1715A>C

1 paper

NM_006063.3

p.W578*

c.1733G>A

1 paper

NM_006063.3

p.W578*

c.1734G>A

2 papers

NM_006063.3

p.K583_I585delFs

c.1748_1755del8

2 papers

NM_006063.3

p.K583fs

c.1747_1748fs

1 paper

NM_006063.3

p.K583T

c.1748A>C

1 paper

NM_006063.3

p.I547V

c.1639A>G

1 paper

NM_006063.3

p.A541A

c.1623T>A

1 paper

NM_006063.3

p.I535F

c.1603A>T

1 paper

NM_006063.3

p.V512G

c.1535T>G

1 paper

NM_006063.3

p.K471R

c.1412A>G