Varaico: Literature-Extracted Genetic Variants

Gene:SREBF2
Variant:p.A397T

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.A397T
c.1189G>A
Surrounding Variants
1 paper
NM_004599.4
p.L396fs
c.1186_1187fs
1 paper
NM_004599.4
p.N384I
c.1151A>T
1 paper
NM_004599.4
p.V383A
c.1148T>C
2 papers
NM_004599.4
p.R371K
c.1112G>A
1 paper
NM_004599.4
p.H365R
c.1094A>G
3 papers
NM_004599.4
p.N425S
c.1274A>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.A435V
c.1304C>T
2 papers
NM_004599.4
p.S436A
c.1306T>G
1 paper
NM_004599.4
p.S438*
c.1313C>A
1 paper
NM_004599.4
p.S438*
c.1313C>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."