Varaico: Literature-Extracted Genetic Variants

Gene:SREBF2
Variant:p.V189M

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.V189M
c.565G>A
Surrounding Variants
1 paper
NM_004599.4
p.V194V
c.582A>C
4 papers
NM_004599.4
p.I199V
c.595A>G
1 paper
NM_004599.4
p.Q204L
c.611A>T
1 paper
NM_004599.4
p.T205I
c.614C>T
1 paper
NM_004599.4
p.V211V
c.633G>C
1 paper
NM_004599.4
p.L212V
c.634C>G
1 paper
NM_004599.4
p.T219M
c.656C>T
1 paper
NM_004599.4
p.P234S
c.700C>T
1 paper
NM_004599.4
p.P240P
c.720G>A
1 paper
NM_004599.4
p.V180A
c.539T>C
1 paper
NM_004599.4
p.A175T
c.523G>A
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."