Varaico: Literature-Extracted Genetic Variants

Gene:SREBF1
Variant:p.K123Q

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.K123Q
c.367A>C
Surrounding Variants
1 paper
NM_004176.5
p.G121_I122delFs
c.363_364delTA
1 paper
NM_004176.5
p.P118L
c.353C>T
1 paper
NM_004176.5
p.P128Q
c.383C>A
2 papers
NM_004176.5
p.S117A
c.349T>G
1 paper
NM_004176.5
p.T134delFs
c.400delT
4 papers
NM_004176.5
p.P111L
c.332C>T
1 paper
NM_004176.5
p.P135A
c.403C>G
1 paper
NM_004176.5
p.M109I
c.327G>A
1 paper
NM_004176.5
p.P137L
c.410C>T
1 paper
NM_004176.5
p.P137R
c.410C>G
1 paper
NM_004176.5
p.P106P
c.318A>G
2 papers
NM_004176.5
p.P141L
c.422C>T
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