Varaico: Literature-Extracted Genetic Variants

Gene:SREBF1
Variant:p.S430fs

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.S430fs
c.1288_1289fs
Surrounding Variants
1 paper
NM_004176.5
p.P429insFs
c.1287dupC
3 papers
NM_004176.5
p.S430A
c.1288T>G
1 paper
NM_004176.5
p.S430*
c.1289C>A
1 paper
NM_004176.5
p.S434A
c.1300T>G
3 papers
NM_004176.5
p.T426A
c.1276A>G
1 paper
NM_004176.5
p.S439T
c.1316G>C
2 papers
NM_004176.5
p.V417M
c.1249G>A
1 paper
NM_004176.5
p.G416G
c.1248C>T
1 paper
NM_004176.5
p.L413L
c.1239C>A
1 paper
NM_004176.5
p.T410I
c.1229C>T
1 paper
NM_004176.5
p.G452D
c.1355G>A
1 paper
NM_004176.5
p.F464S
c.1391T>C
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