Varaico: Literature-Extracted Genetic Variants

Gene:SREBF2
Variant:p.M1T

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
2 papers
NM_004599.4
p.M1T
c.2T>C
Surrounding Variants
1 paper
NM_004599.4
p.T12T
c.36C>T
1 paper
NM_004599.4
p.T15T
c.45C>T
1 paper
NM_004599.4
p.L16P
c.47T>C
1 paper
NM_004599.4
p.E18D
c.54G>C
1 paper
NM_004599.4
p.T24N
c.71C>A
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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."