Varaico: Literature-Extracted Genetic Variants

Gene:SREBF2
Variant:p.L556L

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
3 papers
NM_004599.4
p.L556L
c.1668G>T
Surrounding Variants
1 paper
NM_004599.4
p.R569C
c.1705C>T
1 paper
NM_004599.4
p.V572V
c.1716C>A
1 paper
NM_004599.4
p.L539F
c.1615C>T
1 paper
NM_004599.4
p.M536V
c.1606A>G
1 paper
NM_004599.4
p.H577H
c.1731C>T
1 paper
NM_004599.4
p.R578W
c.1732C>T
1 paper
NM_004599.4
p.R578fs
c.1732_1733fs
1 paper
NM_004599.4
p.W531C
c.1593G>C
1 paper
NM_004599.4
p.W531C
c.1593G>T
1 paper
NM_004599.4
p.G527Splc
c.1580-1G>C
1 paper
NM_004599.4
p.R519H
c.1556G>A
1 paper
NM_004599.4
p.R519L
c.1556G>T
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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."