Varaico: Literature-Extracted Genetic Variants

Gene:LZTFL1
Variant:p.K169*

LZTFL1

68 papers

RefSeq Summary

This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein compl...

Pfam Domains

Leu_zipaa 20–294UCSCLeucine zipper

Gene Aliases

HGNC Name

leucine zipper transcription factor like 1

HGNC Alias Symbol

BBS17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020347.4
p.K169*
c.505A>T
Surrounding Variants
1 paper
NM_020347.4
p.L168_T170delFs
c.503_510del8
1 paper
NM_020347.4
p.I154T
c.461T>C
1 paper
NM_020347.4
p.A178V
c.533C>T
1 paper
NM_020347.4
p.L194F
c.580C>T
1 paper
NM_020347.4
p.D195H
c.583G>C
1 paper
NM_020347.4
p.P140Q
c.419C>A
1 paper
NM_020347.4
p.P140T
c.418C>A
1 paper
NM_020347.4
p.A139insFs
c.415dupG
1 paper
NM_020347.4
p.A139fs
c.415_416fs
1 paper
NM_020347.4
p.D207insFs
c.621dupC
1 paper
NM_020347.4
p.A216T
c.646G>A
1 paper
NM_020347.4
p.T225insFs
c.673_674insAA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."