Varaico: Literature-Extracted Genetic Variants

Gene:LZTFL1
Variant:p.A139insFs

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.A139insFs
c.415dupG
Surrounding Variants
1 paper
NM_020347.4
p.A139fs
c.415_416fs
1 paper
NM_020347.4
p.P140T
c.418C>A
1 paper
NM_020347.4
p.P140Q
c.419C>A
1 paper
NM_020347.4
p.K128K
c.384G>A
2 papers
NM_020347.4
p.N126H
c.376A>C
2 papers
NM_020347.4
p.I122I
c.366T>C
1 paper
NM_020347.4
p.I122L
c.364A>C
1 paper
NM_020347.4
p.E116*
c.346G>T
1 paper
NM_020347.4
p.E112A
c.335A>C
1 paper
NM_020347.4
p.R108*
c.322C>T
1 paper
NM_020347.4
p.I154T
c.461T>C
1 paper
NM_020347.4
p.K169*
c.505A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."