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.G587S

c.1759G>A

Surrounding Variants

1 paper

NM_198317.3

p.G584S

c.1750G>A

1 paper

NM_198317.3

p.G584fs

c.1750_1751fs

1 paper

NM_198317.3

p.E595A

c.1784A>C

1 paper

NM_198317.3

p.A574T

c.1720G>A

1 paper

NM_198317.3

p.H570Q

c.1710T>A

1 paper

NM_198317.3

p.H570Q

c.1710T>G

1 paper

NM_198317.3

p.A607T

c.1819G>A

1 paper

NM_198317.3

p.L624fs

c.1870_1871fs

1 paper

NM_198317.3

p.L624_F627delFs

c.1871_1880del10

1 paper

NM_198317.3

p.N626S

c.1877A>G

1 paper

NM_198317.3

p.P633Q

c.1898C>A

1 paper

NM_198317.3

p.P633P

c.1899G>A