Varaico: Literature-Extracted Genetic Variants

LZTR1

643 papers

RefSeq Summary

This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the enco...

Pfam Domains

Kelch_KLHDC2_KLHL20_DRC7aa 70–280UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Kelch_KLHDC2_KLHL20_DRC7aa 215–342UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

BTBaa 433–574UCSCBTB/POZ domain

BTBaa 658–767UCSCBTB/POZ domain

Gene Aliases

HGNC Name

leucine zipper like post translational regulator 1

HGNC Alias Symbols

LZTR-1; BTBD29

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_006767.4

p.R237Q

c.710G>A

Surrounding Variants

1 paper

NM_006767.4

p.D238N

c.712G>A

1 paper

NM_006767.4

p.V235M

c.703G>A

1 paper

NM_006767.4

p.M240delFs

c.718delA

1 paper

NM_006767.4

p.M240fs

c.718_719fs

1 paper

NM_006767.4

p.V242L

c.724G>C

4 papers

NM_006767.4

p.F243L

c.727T>C

1 paper

NM_006767.4

p.P232insFs

c.696dupC

4 papers

NM_006767.4

p.F243L

c.729C>A

4 papers

NM_006767.4

p.F243L

c.729C>G

2 papers

NM_006767.4

p.F231fs

c.691_692fs

3 papers

NM_006767.4

p.F231delFs

c.692delT

5 papers

NM_006767.4

p.S244P

c.730T>C