Varaico: Literature-Extracted Genetic Variants

Gene:SREBF1
Variant:p.E912K

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.E912K
c.2734G>A
Surrounding Variants
1 paper
NM_004176.5
p.E912*
c.2734G>T
1 paper
NM_004176.5
p.R889W
c.2665C>T
1 paper
NM_004176.5
p.P871R
c.2612C>G
1 paper
NM_004176.5
p.E912K
c.2734G>A
1 paper
NM_004176.5
p.T865I
c.2594C>T
1 paper
NM_004176.5
p.I859I
c.2577C>T
1 paper
NM_004176.5
p.R927Q
c.2780G>A
1 paper
NM_004176.5
p.F857V
c.2569T>G
1 paper
NM_004176.5
p.A928T
c.2782G>A
1 paper
NM_004176.5
p.A928V
c.2783C>T
1 paper
NM_004176.5
p.L930R
c.2789T>G
1 paper
NM_004176.5
p.E936*
c.2806G>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."