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.P226L

c.677C>T

Surrounding Variants

1 paper

NM_006767.4

p.S227fs

c.679_680fs

3 papers

NM_006767.4

p.P225L

c.674C>T

1 paper

NM_006767.4

p.P225S

c.673C>T

1 paper

NM_006767.4

p.I224_P225delins

c.672_673delinsTT

2 papers

NM_006767.4

p.P226insFs

c.677dupC

1 paper

NM_006767.4

p.P226_P232ins2

c.676_696dup21

1 paper

NM_006767.4

p.C228*

c.684C>A

2 papers

NM_006767.4

p.C229_F231delFs

c.685_692del8

1 paper

NM_006767.4

p.C229fs

c.685_686fs

1 paper

NM_006767.4

p.E223G

c.668A>G

1 paper

NM_006767.4

p.E223*

c.667G>T

3 papers

NM_006767.4

p.F231delFs

c.692delT