Varaico: Literature-Extracted Genetic Variants

Gene:SREBF1
Variant:p.P197L

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
3 papers
NM_004176.5
p.P197L
c.590C>T
Surrounding Variants
1 paper
NM_004176.5
p.T203A
c.607A>G
1 paper
NM_004176.5
p.L188V
c.562C>G
1 paper
NM_004176.5
p.G187D
c.560G>A
1 paper
NM_004176.5
p.G187C
c.559G>T
1 paper
NM_004176.5
p.Q183Q
c.549G>A
1 paper
NM_004176.5
p.Q211H
c.633G>C
1 paper
NM_004176.5
p.Q212*
c.634C>T
1 paper
NM_004176.5
p.Q182E
c.544C>G
1 paper
NM_004176.5
p.L214L
c.642G>C
1 paper
NM_004176.5
p.V208_T215del0
c.624_644del21
1 paper
NM_004176.5
p.A219S
c.655G>T
1 paper
NM_004176.5
p.G175Splc
c.524-2A>G
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