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

4 papers

NM_006767.4

p.V347_P348insC

c.1039_1043ins3

Surrounding Variants

1 paper

NM_006767.4

p.E345*

c.1033G>T

2 papers

NM_006767.4

p.Y352S

c.1055A>C

2 papers

NM_006767.4

p.E353*

c.1057G>T

24 papers

NM_006767.4

p.R340*

c.1018C>T

1 paper

NM_006767.4

p.E354*

c.1060G>T

2 papers

NM_006767.4

p.R355W

c.1063C>T

3 papers

NM_006767.4

p.E339*

c.1015G>T

2 papers

NM_006767.4

p.V337M

c.1009G>A

1 paper

NM_006767.4

p.G357A

c.1070G>C

1 paper

NM_006767.4

p.A335Fs

c.1003delinsGAFs

1 paper

NM_006767.4

p.G334A

c.1001G>C

2 papers

NM_006767.4

p.G334insFs

c.1000_1001insG