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

1 paper

NM_006767.4

p.Q161Q

c.483G>A

Surrounding Variants

1 paper

NM_006767.4

p.Q161*

c.481C>T

3 papers

NM_006767.4

p.W162*

c.485G>A

3 papers

NM_006767.4

p.W162*

c.486G>A

1 paper

NM_006767.4

p.T163insFs

c.487dupA

4 papers

NM_006767.4

p.T163M

c.488C>T

1 paper

NM_006767.4

p.W165C

c.495G>C

1 paper

NM_006767.4

p.W165C

c.495G>T

1 paper

NM_006767.4

p.K156R

c.467A>G

1 paper

NM_006767.4

p.K156E

c.466A>G

3 papers

NM_006767.4

p.Y155*

c.465C>A

3 papers

NM_006767.4

p.Y155*

c.465C>G

2 papers

NM_006767.4

p.K156_F157delFs

c.466_469del4