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.G169R

c.505G>A

Surrounding Variants

1 paper

NM_006767.4

p.G169R

c.505G>C

1 paper

NM_006767.4

p.G169*

c.505G>T

8 papers

NM_006767.4

p.R170W

c.508C>T

1 paper

NM_006767.4

p.E168fs

c.502_503fs

19 papers

NM_006767.4

p.R170Q

c.509G>A

6 papers

NM_006767.4

p.R170P

c.509G>C

1 paper

NM_006767.4

p.E168delFs

c.502delG

1 paper

NM_006767.4

p.W165C

c.495G>C

1 paper

NM_006767.4

p.W165C

c.495G>T

4 papers

NM_006767.4

p.T163M

c.488C>T

3 papers

NM_006767.4

p.W162*

c.486G>A

1 paper

NM_006767.4

p.T163insFs

c.487dupA