Varaico: Literature-Extracted Genetic Variants

Gene:SREBF1
Variant:p.D42fs

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.D42fs
c.124_125fs
Surrounding Variants
1 paper
NM_004176.5
p.S41fs
c.121_122fs
1 paper
NM_004176.5
p.S41N
c.122G>A
1 paper
NM_004176.5
p.P50S
c.148C>T
1 paper
NM_004176.5
p.P50P
c.150C>G
1 paper
NM_004176.5
p.Y51C
c.152A>G
1 paper
NM_004176.5
p.D31Splc
c.92-1G>T
1 paper
NM_004176.5
p.D31Splc
c.92-1G>C
1 paper
NM_004176.5
p.D31Splc
c.92-2A>T
2 papers
NM_004176.5
p.G58A
c.173G>C
1 paper
NM_004176.5
p.T59A
c.175A>G
1 paper
NM_004176.5
p.A62Fs
c.186delinsTGFs
1 paper
NM_004176.5
p.S63N
c.188G>A
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