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

18 papers

NM_006767.4

p.R283Q

c.848G>A

Surrounding Variants

1 paper

NM_006767.4

p.R283L

c.848G>T

1 paper

NM_006767.4

p.R283W

c.847C>T

1 paper

NM_006767.4

p.R284S

c.850C>A

31 papers

NM_006767.4

p.R284C

c.850C>T

4 papers

NM_006767.4

p.R284H

c.851G>A

1 paper

NM_006767.4

p.Q282*

c.844C>T

1 paper

NM_006767.4

p.G286_T288del3

c.856_863del9

3 papers

NM_006767.4

p.P281L

c.842C>T

1 paper

NM_006767.4

p.Y285*

c.855C>A

2 papers

NM_006767.4

p.P281fs

c.841_842fs

1 paper

NM_006767.4

p.Y285*

c.855C>G

3 papers

NM_006767.4

p.P281fs

c.841_842fs