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

5 papers

NM_006767.4

p.D668Y

c.2002G>T

Surrounding Variants

1 paper

NM_006767.4

p.D668G

c.2003A>G

1 paper

NM_006767.4

p.I669fs

c.2005_2006fs

1 paper

NM_006767.4

p.I669insFs

c.2006_2007ins11

1 paper

NM_006767.4

p.L671delFs

c.2011_2012delCT

1 paper

NM_006767.4

p.L671fs

c.2011_2012fs

1 paper

NM_006767.4

p.L671fs

c.2011_2012fs

1 paper

NM_006767.4

p.E665*

c.1993G>T

2 papers

NM_006767.4

p.A664T

c.1990G>A

1 paper

NM_006767.4

p.L672fs

c.2014_2015fs

1 paper

NM_006767.4

p.G663V

c.1988G>T

2 papers

NM_006767.4

p.A662V

c.1985C>T

1 paper

NM_006767.4

p.G661E

c.1982G>A