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.S522delFs

c.1564delT

Surrounding Variants

1 paper

NM_198317.3

p.Q506_V507Splc

c.1519-2A>C

1 paper

NM_198317.3

p.L544F

c.1630C>T

1 paper

NM_198317.3

p.P552S

c.1654C>T

1 paper

NM_198317.3

p.A561E

c.1682C>A

1 paper

NM_198317.3

p.P562H

c.1685C>A

1 paper

NM_198317.3

p.Y503C

c.1508A>G

1 paper

NM_198317.3

p.D492N

c.1474G>A

1 paper

NM_198317.3

p.R477Q

c.1430G>A

1 paper

NM_198317.3

p.T462M

c.1385C>T

1 paper

NM_198317.3

p.L459delFs

c.1375_1376delCT

1 paper

NM_198317.3

p.L459del1

c.1375_1376delCTG

1 paper

NM_198317.3

p.D457H

c.1369G>C