Varaico: Literature-Extracted Genetic Variants

Gene:LZTFL1
Variant:p.L69P

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_001276379.2
p.L69P
c.206T>C
Surrounding Variants
1 paper
NM_020347.4
p.N75I
c.224A>T
1 paper
NM_020347.4
p.E70K
c.208G>A
1 paper
NM_020347.4
p.V81E
c.242T>A
1 paper
NM_020347.4
p.A63D
c.188C>A
1 paper
NM_020347.4
p.L87P
c.260T>C
1 paper
NM_020347.4
p.L96R
c.287T>G
1 paper
NM_020347.4
p.I102M
c.306C>G
1 paper
NM_020347.4
p.L105P
c.314T>C
1 paper
NM_020347.4
p.E106A
c.317A>C
1 paper
NM_020347.4
p.R108*
c.322C>T
1 paper
NM_020347.4
p.R108*
c.322C>T
1 paper
NM_020347.4
p.E112A
c.335A>C
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."