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.L285V

c.853T>G

Surrounding Variants

2 papers

NM_198317.3

p.R282W

c.844C>T

1 paper

NM_198317.3

p.R288C

c.862C>T

1 paper

NM_198317.3

p.R288R

c.864C>T

1 paper

NM_198317.3

p.E298*

c.892G>T

1 paper

NM_198317.3

p.P321L

c.962C>T

1 paper

NM_198317.3

p.R335L

c.1004G>T

1 paper

NM_198317.3

p.R336H

c.1007G>A

1 paper

NM_198317.3

p.R276Q

c.827G>A

1 paper

NM_198317.3

p.P275L

c.824C>T

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.V267M

c.799G>A