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.E259V

c.776A>T

Surrounding Variants

1 paper

NM_006767.4

p.F258fs

c.772_773fs

4 papers

NM_006767.4

p.F258fs

c.772_773fs

5 papers

NM_006767.4

p.F258delFs

c.772delT

1 paper

NM_006767.4

p.Q257R

c.770A>G

1 paper

NM_006767.4

p.D262N

c.784G>A

2 papers

NM_006767.4

p.L255R

c.764T>G

1 paper

NM_006767.4

p.L255V

c.763C>G

16 papers

NM_006767.4

p.T264Splc

c.791+1G>A

2 papers

NM_006767.4

p.T264Splc

c.791+1G>C

3 papers

NM_006767.4

p.T264Splc

c.791+1G>T

1 paper

NM_006767.4

p.N253S

c.758A>G

5 papers

NM_006767.4

p.N253del1

c.757_758delAAC