Varaico: Literature-Extracted Genetic Variants

Gene:LZTR1
Variant:p.G248R

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
50 papers
NM_006767.4
p.G248R
c.742G>A
Surrounding Variants
48 papers
NM_006767.4
p.G248R
c.742G>C
1 paper
NM_006767.4
p.S247R
c.741C>A
1 paper
NM_006767.4
p.S247R
c.741C>G
1 paper
NM_006767.4
p.S247S
c.741C>T
4 papers
NM_006767.4
p.G248E
c.743G>A
1 paper
NM_006767.4
p.G248A
c.743G>C
16 papers
NM_006767.4
p.S247N
c.740G>A
1 paper
NM_006767.4
p.S247R
c.739A>C
5 papers
NM_006767.4
p.A249P
c.745G>C
3 papers
NM_006767.4
p.Q246P
c.737A>C
1 paper
NM_006767.4
p.Q246*
c.736C>T
1 paper
NM_006767.4
p.G245V
c.734G>T
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