Varaico: Literature-Extracted Genetic Variants

Gene:SREBF1
Variant:p.K468_A469Splc

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.K468_A469Splc
c.1404+117A>G
Surrounding Variants
1 paper
NM_004176.5
p.A469A
c.1407A>T
1 paper
NM_004176.5
p.F464S
c.1391T>C
1 paper
NM_004176.5
p.L477M
c.1429C>A
1 paper
NM_004176.5
p.G452D
c.1355G>A
1 paper
NM_004176.5
p.T492_L493ins4
c.1474_1478ins12
1 paper
NM_004176.5
p.T492M
c.1475C>T
1 paper
NM_004176.5
p.V494V
c.1482C>T
1 paper
NM_004176.5
p.S439T
c.1316G>C
1 paper
NM_004176.5
p.S499P
c.1495T>C
1 paper
NM_001005291.3
p.L528del1
c.1582_1584delCAG
1 paper
NM_004176.5
p.S434A
c.1300T>G
1 paper
NM_004176.5
p.S430*
c.1289C>A
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