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.M202fs

c.604_605fs

Surrounding Variants

6 papers

NM_006767.4

p.M202fs

c.604_605fs

3 papers

NM_006767.4

p.M202delFs

c.604_605delAT

9 papers

NM_006767.4

p.M202R

c.605T>G

4 papers

NM_006767.4

p.M202_E217del0

c.606_650del45

1 paper

NM_006767.4

p.W203*

c.608G>A

1 paper

NM_006767.4

p.W203*

c.609G>A

1 paper

NM_006767.4

p.W203C

c.609G>T

1 paper

NM_006767.4

p.N200fs

c.598_599fs

1 paper

NM_006767.4

p.L199F

c.597G>C

1 paper

NM_006767.4

p.L199F

c.597G>T

2 papers

NM_006767.4

p.L199fs

c.595_596fs

5 papers

NM_006767.4

p.I205T

c.614T>C