Varaico: Literature-Extracted Genetic Variants

Gene:SREBF2
Variant:p.S436A

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.S436A
c.1306T>G
Surrounding Variants
1 paper
NM_004599.4
p.A435V
c.1304C>T
1 paper
NM_004599.4
p.S438*
c.1313C>A
1 paper
NM_004599.4
p.S438*
c.1313C>G
1 paper
NM_004599.4
p.S432T
c.1294T>A
3 papers
NM_004599.4
p.S432A
c.1294T>G
1 paper
NM_004599.4
p.P446L
c.1337C>T
3 papers
NM_004599.4
p.N425S
c.1274A>G
1 paper
NM_004599.4
p.S455G
c.1363A>G
1 paper
NM_004599.4
p.P456L
c.1367C>T
1 paper
NM_004599.4
p.L457V
c.1369C>G
1 paper
NM_004599.4
p.D459G
c.1376A>G
1 paper
NM_004599.4
p.K462_V463Splc
c.1386+117A>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."