Varaico: Literature-Extracted Genetic Variants

Gene:SREBF1
Variant:p.Q761_W762delFs

SREBF1

327 papers

RefSeq Summary

This gene encodes a basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a motif that is found in the promoter of the lo...

Pfam Domains

HLHaa 324–374UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

sterol regulatory element binding transcription factor 1

HGNC Alias Symbols

SREBP1; bHLHd1; SREBP-1c; SREBP1a

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004176.5
p.Q761_W762delFs
c.2282_2286del5
Surrounding Variants
1 paper
NM_004176.5
p.P758L
c.2273C>T
1 paper
NM_004176.5
p.F772S
c.2315T>C
1 paper
NM_004176.5
p.Q752E
c.2254C>G
1 paper
NM_004176.5
p.A751V
c.2252C>T
1 paper
NM_004176.5
p.R746H
c.2237G>A
1 paper
NM_004176.5
p.R739H
c.2216G>A
1 paper
NM_004176.5
p.T738_R739Splc
c.2214+6T>G
1 paper
NM_004176.5
p.T738_R739Splc
c.2214+4A>G
1 paper
NM_004176.5
p.T738R
c.2213C>G
1 paper
NM_004176.5
p.A721V
c.2162C>T
1 paper
NM_004176.5
p.A716V
c.2147C>T
1 paper
NM_004176.5
p.T714T
c.2142G>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."