Varaico: Literature-Extracted Genetic Variants

Gene:SREBF1
Variant:p.S73A

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.S73A
c.217T>G
Surrounding Variants
1 paper
NM_004176.5
p.S71fs
c.211_212fs
1 paper
NM_004176.5
p.G70R
c.208G>C
1 paper
NM_004176.5
p.T78A
c.232A>G
1 paper
NM_004176.5
p.P64T
c.190C>A
1 paper
NM_004176.5
p.S63N
c.188G>A
1 paper
NM_004176.5
p.A62Fs
c.186delinsTGFs
1 paper
NM_004176.5
p.A85T
c.253G>A
1 paper
NM_004176.5
p.E84del1
c.250_251delTTC
1 paper
NM_004176.5
p.T59A
c.175A>G
2 papers
NM_004176.5
p.G58A
c.173G>C
1 paper
NM_004176.5
p.P90S
c.268C>T
1 paper
NM_004176.5
p.Q91*
c.271C>T
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