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.Q163_T164Splc

c.490-4G>A

Surrounding Variants

1 paper

NM_198317.3

p.Q188P

c.563A>C

1 paper

NM_198317.3

p.E159K

c.475G>A

1 paper

NM_198317.3

p.I155T

c.464T>C

1 paper

NM_198317.3

p.G196C

c.586G>T

1 paper

NM_198317.3

p.A153A

c.459T>G

1 paper

NM_198317.3

p.A153delFs

c.459delT

1 paper

NM_198317.3

p.G199S

c.595G>A

1 paper

NM_198317.3

p.A203A

c.609G>C

1 paper

NM_198317.3

p.H214D

c.640C>G

1 paper

NM_198317.3

p.V224_T227del4

c.670_680del12

1 paper

NM_198317.3

p.N123S

c.368A>G

2 papers

NM_198317.3

p.P234L

c.701C>T