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.T50insFs

c.149_150ins4

Surrounding Variants

1 paper

NM_006767.4

p.T50I

c.149C>T

2 papers

NM_006767.4

p.T50fs

c.148_149fs

2 papers

NM_006767.4

p.H52delFs

c.154delC

1 paper

NM_006767.4

p.F48L

c.144C>A

1 paper

NM_006767.4

p.H52fs

c.154_155fs

1 paper

NM_006767.4

p.F48L

c.144C>G

2 papers

NM_006767.4

p.H52fs

c.154_155fs

1 paper

NM_006767.4

p.F48delFs

c.144delC

1 paper

NM_006767.4

p.F48L

c.142T>C

1 paper

NM_006767.4

p.R53C

c.157C>T

1 paper

NM_006767.4

p.P47R

c.140C>G

1 paper

NM_006767.4

p.W54*

c.161G>A