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

Selected Variant

1 paper

NM_198317.3

p.N123S

c.368A>G

Surrounding Variants

1 paper

NM_198317.3

p.N123S

c.368A>G

1 paper

NM_198317.3

p.A153delFs

c.459delT

1 paper

NM_198317.3

p.A153A

c.459T>G

1 paper

NM_198317.3

p.I155T

c.464T>C

1 paper

NM_198317.3

p.E159K

c.475G>A

1 paper

NM_198317.3

p.A111V

c.332C>T

1 paper

NM_198317.3

p.R104C

c.310C>T

1 paper

NM_198317.3

p.V98M

c.292G>A

1 paper

NM_198317.3

p.V95A

c.284T>C

2 papers

NM_198317.3

p.R86insFs

c.256_257ins4

2 papers

NM_198317.3

p.R86fs

c.256_257fs

1 paper

NM_198317.3

p.Q163_T164Splc

c.490-4G>A