Varaico: Literature-Extracted Genetic Variants

Gene:LZTFL1
Variant:p.D207insFs

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.D207insFs
c.621dupC
Surrounding Variants
1 paper
NM_020347.4
p.A216T
c.646G>A
1 paper
NM_020347.4
p.T225insFs
c.673_674insAA
1 paper
NM_020347.4
p.K229E
c.685A>G
1 paper
NM_020347.4
p.T230I
c.689C>T
1 paper
NM_020347.4
p.L236V
c.706C>G
1 paper
NM_020347.4
p.T242A
c.724A>G
1 paper
NM_020347.4
p.L240_A241del2
c.718_722del6
1 paper
NM_020347.4
p.H245Y
c.733C>T
9 papers
NM_020347.4
p.D246N
c.736G>A
1 paper
NM_020347.4
p.V250I
c.748G>A
1 paper
NM_020347.4
p.M256V
c.766A>G
1 paper
NM_020347.4
p.E260*
c.778G>T
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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."