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

2 papers

NM_198317.3

p.L239P

c.716T>C

Surrounding Variants

1 paper

NM_198317.3

p.Q237_V238Splc

c.712-2A>G

1 paper

NM_198317.3

p.E252Q

c.754G>C

2 papers

NM_198317.3

p.Y256_R257ins4

c.766_770ins12

1 paper

NM_198317.3

p.S261G

c.781A>G

1 paper

NM_198317.3

p.D266N

c.796G>A

1 paper

NM_198317.3

p.V267M

c.799G>A

1 paper

NM_198317.3

p.V274D

c.821T>A

1 paper

NM_198317.3

p.V274A

c.821T>C

1 paper

NM_198317.3

p.P275L

c.824C>T

1 paper

NM_198317.3

p.R276Q

c.827G>A

1 paper

NM_198317.3

p.Q237_V238Splc

c.711+137T>C

1 paper

NM_198317.3

p.Q237_V238Splc

c.711+13G>A