Varaico: Literature-Extracted Genetic Variants

Gene:SREBF1
Variant:p.T289T

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.T289T
c.867C>T
Surrounding Variants
1 paper
NM_004176.5
p.T293I
c.878C>T
2 papers
NM_004176.5
p.L296Q
c.887T>A
1 paper
NM_004176.5
p.V298I
c.892G>A
1 paper
NM_004176.5
p.D299G
c.896A>G
1 paper
NM_004176.5
p.A310P
c.928G>C
1 paper
NM_004176.5
p.K313E
c.937A>G
1 paper
NM_004176.5
p.P315L
c.944C>T
1 paper
NM_004176.5
p.S317insFs
c.949_950insA
1 paper
NM_004176.5
p.G322A
c.965G>C
1 paper
NM_004176.5
p.N329D
c.985A>G
1 paper
NM_004176.5
p.V276M
c.826G>A
2 papers
NM_004176.5
p.R334C
c.1000C>T
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