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

1–12 of 68 variants

4 papers

NM_006063.3

p.R59P

c.176G>C

2 papers

NM_006063.3

p.S3F

c.8C>T

2 papers

NM_006063.3

p.C35R

c.103T>C

2 papers

NM_006063.3

p.K70fs

c.208_209fs

2 papers

NM_006063.3

p.R225fs

c.673_674fs

2 papers

NM_006063.3

p.R225insFs

c.674_675insC

2 papers

NM_006063.3

p.A271T

c.811G>A

2 papers

NM_006063.3

p.L288R

c.863T>G

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.R5G

c.13C>G

1 paper

NM_006063.3

p.D34Y

c.100G>T