Varaico: Literature-Extracted Genetic Variants

Gene:SREBF2
Variant:p.Q142R

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.Q142R
c.425A>G
Surrounding Variants
1 paper
NM_004599.4
p.Q138Q
c.414G>A
1 paper
NM_004599.4
p.Q148K
c.442C>A
4 papers
NM_004599.4
p.Q148L
c.443A>T
1 paper
NM_004599.4
p.T162T
c.486G>A
1 paper
NM_004599.4
p.V121_P122delFs
c.363_364delTC
1 paper
NM_004599.4
p.V114A
c.341T>C
1 paper
NM_004599.4
p.T111T
c.333T>C
2 papers
NM_004599.4
p.A174A
c.522A>T
1 paper
NM_004599.4
p.A175T
c.523G>A
1 paper
NM_004599.4
p.P107S
c.319C>T
1 paper
NM_004599.4
p.V180A
c.539T>C
1 paper
NM_004599.4
p.P102S
c.304C>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."