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.A441A

c.1323C>T

Surrounding Variants

1 paper

NM_198317.3

p.P418L

c.1253C>T

1 paper

NM_198317.3

p.P411L

c.1232C>T

1 paper

NM_198317.3

p.V406M

c.1216G>A

1 paper

NM_198317.3

p.G396G

c.1188C>T

2 papers

NM_198317.3

p.T366A

c.1096A>G

1 paper

NM_198317.3

p.D457H

c.1369G>C

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.T462M

c.1385C>T

1 paper

NM_198317.3

p.R477Q

c.1430G>A

1 paper

NM_198317.3

p.R336H

c.1007G>A

1 paper

NM_198317.3

p.R335L

c.1004G>T