Varaico: Literature-Extracted Genetic Variants

Gene:LZTFL1

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
1–12 of 58 variants
9 papers
NM_020347.4
p.D246N
c.736G>A
2 papers
NM_001276379.2
p.M1I
c.3G>A
2 papers
NM_020347.4
p.M1I
c.3G>A
2 papers
NM_020347.4
p.R22C
c.64C>T
2 papers
NM_020347.4
p.I122I
c.366T>C
2 papers
NM_020347.4
p.N126H
c.376A>C
1 paper
NM_020347.4
p.V14D
c.41T>A
1 paper
NM_001276378.2
p.M1I
c.3G>A
1 paper
NM_020347.4
p.S23A
c.67T>G
1 paper
NM_020347.4
p.G26G
c.78C>G
1 paper
NM_020347.4
p.L27S
c.80T>C
1 paper
NM_020347.4
p.D33A
c.98A>C
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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."