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.A683fs

c.2047_2048fs

Surrounding Variants

1 paper

NM_006767.4

p.I684fs

c.2050_2051fs

1 paper

NM_006767.4

p.K682E

c.2044A>G

1 paper

NM_006767.4

p.H681Y

c.2041C>T

1 paper

NM_006767.4

p.A680D

c.2039C>A

1 paper

NM_006767.4

p.A687T

c.2059G>A

1 paper

NM_006767.4

p.R678Q

c.2033G>A

6 papers

NM_006767.4

p.R688G

c.2062C>G

21 papers

NM_006767.4

p.R688C

c.2062C>T

1 paper

NM_006767.4

p.R678W

c.2032C>T

3 papers

NM_006767.4

p.R688H

c.2063G>A

1 paper

NM_006767.4

p.S689C

c.2066C>G

5 papers

NM_006767.4

p.S690Splc

c.2069+2T>C