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.D61G

c.182A>G

Surrounding Variants

1 paper

NM_006767.4

p.D61A

c.182A>C

1 paper

NM_006767.4

p.E62delFs

c.184delG

3 papers

NM_006767.4

p.D61N

c.181G>A

1 paper

NM_006767.4

p.D61H

c.181G>C

1 paper

NM_006767.4

p.D61Y

c.181G>T

1 paper

NM_006767.4

p.E62fs

c.184_185fs

1 paper

NM_006767.4

p.C60Y

c.179G>A

2 papers

NM_006767.4

p.C60S

c.179G>C

1 paper

NM_006767.4

p.G65D

c.194G>A

2 papers

NM_006767.4

p.L57F

c.169C>T

1 paper

NM_006767.4

p.R67P

c.200G>C

1 paper

NM_006767.4

p.R55delFs

c.165delG