Varaico: Literature-Extracted Genetic Variants

Gene:SREBF2

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
1–12 of 152 variants
32 papers
NM_004599.4
p.G595A
c.1784G>C
4 papers
NM_004599.4
p.Q148L
c.443A>T
4 papers
NM_004599.4
p.I199V
c.595A>G
3 papers
NM_004599.4
p.L253F
c.757C>T
3 papers
NM_004599.4
p.N425S
c.1274A>G
3 papers
NM_004599.4
p.S432A
c.1294T>G
3 papers
NM_004599.4
p.L556L
c.1668G>T
3 papers
NM_004599.4
p.I796V
c.2386A>G
2 papers
NM_004599.4
p.M1T
c.2T>C
2 papers
NM_004599.4
p.E48K
c.142G>A
2 papers
NM_004599.4
p.G68delFs
c.202delG
2 papers
NM_004599.4
p.A174A
c.522A>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."