Varaico: Literature-Extracted Genetic Variants

Gene:SREBF1
Variant:p.R557C

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
8 papers
NM_001005291.3
p.R557C
c.1669C>T
NM_004176.5
p.R527C
c.1579C>T
Surrounding Variants
1 paper
NM_004176.5
p.R527L
c.1580G>T
3 papers
NM_004176.5
p.R527H
c.1580G>A
1 paper
NM_004176.5
p.N528del1
c.1582_1584delGTT
3 papers
NM_004176.5
p.L530P
c.1589T>C
1 paper
NM_004176.5
p.V521V
c.1563C>T
1 paper
NM_004176.5
p.T532T
c.1596C>T
1 paper
NM_004176.5
p.T518T
c.1554C>A
1 paper
NM_004176.5
p.S516P
c.1546T>C
1 paper
NM_004176.5
p.R510R
c.1530G>A
1 paper
NM_004176.5
p.R510Q
c.1529G>A
1 paper
NM_004176.5
p.S499P
c.1495T>C
1 paper
NM_001005291.3
p.L528del1
c.1582_1584delCAG
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