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.G12R

c.34G>A

Surrounding Variants

2 papers

NM_006767.4

p.G12W

c.34G>T

1 paper

NM_006767.4

p.G12_A13delFs

c.36_37delGG

1 paper

NM_006767.4

p.G12A

c.35G>C

2 papers

NM_006767.4

p.G12V

c.35G>T

1 paper

NM_006767.4

p.I11Fs

c.31delinsAGFs

8 papers

NM_006767.4

p.Q10fs

c.28_29fs

21 papers

NM_006767.4

p.Q10fs

c.28_29fs

1 paper

NM_006767.4

p.A14V

c.41C>T

1 paper

NM_006767.4

p.G9A

c.26G>C

1 paper

NM_006767.4

p.G8A

c.23G>C

1 paper

NM_006767.4

p.L16M

c.46C>A

1 paper

NM_006767.4

p.G8W

c.22G>T