Varaico: Literature-Extracted Genetic Variants

Gene:SREBF2
Variant:p.R904C

SREBF2

267 papers

RefSeq Summary

This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contain...

Pfam Domains

HLHaa 331–381UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

sterol regulatory element binding transcription factor 2

HGNC Alias Symbols

SREBP2; bHLHd2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004599.4
p.R904C
c.2710C>T
Surrounding Variants
2 papers
NM_004599.4
p.V902L
c.2704G>C
2 papers
NM_004599.4
p.V902L
c.2704G>T
2 papers
NM_004599.4
p.R860S
c.2580G>C
2 papers
NM_004599.4
p.R860S
c.2580G>T
1 paper
NM_004599.4
p.A929V
c.2786C>T
1 paper
NM_004599.4
p.P856P
c.2568C>A
1 paper
NM_004599.4
p.P856S
c.2566C>T
1 paper
NM_004599.4
p.S846C
c.2537C>G
1 paper
NM_004599.4
p.R947R
c.2839A>C
1 paper
NM_004599.4
p.A966T
c.2896G>A
1 paper
NM_004599.4
p.R810*
c.2428C>T
3 papers
NM_004599.4
p.I796V
c.2386A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."