Varaico: Literature-Extracted Genetic Variants

Gene:SREBF1
Variant:p.M1insFs

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
2 papers
NM_004176.5
p.M1insFs
c.2_3ins19
Surrounding Variants
1 paper
NM_004176.5
p.M1insFs
c.2_3ins17
1 paper
NM_004176.5
p.M1ins10
c.2_3ins30
1 paper
NM_004176.5
p.M1insFs
c.2_3insGC
1 paper
NM_004176.5
p.M1_P4delFs
c.3_12del10
1 paper
NM_004176.5
p.Q13K
c.37C>A
5 papers
NM_004176.5
p.E12delFs
c.36delC
1 paper
NM_004176.5
p.E3_E12del10
c.7_35del30
2 papers
NM_004176.5
p.A14E
c.41C>A
1 paper
NM_004176.5
p.L15P
c.44T>C
1 paper
NM_004176.5
p.G16A
c.47G>C
1 paper
NM_004176.5
p.G16G
c.48C>T
6 papers
NM_004176.5
p.P18P
c.54G>C
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