Varaico: Literature-Extracted Genetic Variants

KLHL17

65 papers

RefSeq Summary

The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, ...

Pfam Domains

BTBaa 82–189UCSCBTB/POZ domain

BACKaa 194–296UCSCBTB And C-terminal Kelch

Kelch_1aa 378–423UCSCKelch motif

Kelch_1aa 425–470UCSCKelch motif

Kelch_1aa 472–517UCSCKelch motif

Kelch_1aa 519–564UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 17

HGNC Previous Name

kelch-like 17 (Drosophila)

Papers

RefSeq ID

Protein change

DNA change

1–12 of 84 variants

2 papers

NM_198317.3

p.M53I

c.159G>A

2 papers

NM_198317.3

p.R86insFs

c.256_257ins4

2 papers

NM_198317.3

p.R86fs

c.256_257fs

2 papers

NM_198317.3

p.P234L

c.701C>T

2 papers

NM_198317.3

p.L239P

c.716T>C

2 papers

NM_198317.3

p.Y256_R257ins4

c.766_770ins12

2 papers

NM_198317.3

p.R282W

c.844C>T

2 papers

NM_198317.3

p.T366A

c.1096A>G

2 papers

NM_198317.3

p.G587S

c.1759G>A

1 paper

NM_198317.3

p.R4C

c.10C>T

1 paper

NM_198317.3

p.R11G

c.31A>G

1 paper

NM_198317.3

p.G18S

c.52G>A