Varaico: Literature-Extracted Genetic Variants

Gene:SREBF1
Variant:p.A579T

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.A579T
c.1735G>A
Surrounding Variants
1 paper
NM_004176.5
p.R586C
c.1756C>T
1 paper
NM_004176.5
p.E569K
c.1705G>A
1 paper
NM_004176.5
p.L591L
c.1771C>T
1 paper
NM_004176.5
p.L591L
c.1773G>T
1 paper
NM_004176.5
p.L561F
c.1683G>T
1 paper
NM_004176.5
p.L561F
c.1683G>C
1 paper
NM_004176.5
p.L558F
c.1672C>T
1 paper
NM_004176.5
p.L545L
c.1633C>T
1 paper
NM_004176.5
p.P538P
c.1614T>C
1 paper
NM_004176.5
p.T532T
c.1596C>T
3 papers
NM_004176.5
p.L530P
c.1589T>C
1 paper
NM_004176.5
p.N528del1
c.1582_1584delGTT
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