Varaico: Literature-Extracted Genetic Variants

Gene:SREBF2
Variant:p.G68delFs

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.G68delFs
c.202delG
Surrounding Variants
1 paper
NM_004599.4
p.S74del1
c.220_221delAGC
1 paper
NM_004599.4
p.S74C
c.220A>T
1 paper
NM_004599.4
p.G76C
c.226G>T
1 paper
NM_004599.4
p.G82R
c.244G>A
1 paper
NM_004599.4
p.G82R
c.244G>C
1 paper
NM_004599.4
p.S52S
c.156C>T
1 paper
NM_004599.4
p.S52Fs
c.154delinsTTCTGCAAACTCCTFs
1 paper
NM_004599.4
p.D85N
c.253G>A
2 papers
NM_004599.4
p.E48K
c.142G>A
1 paper
NM_004599.4
p.S91*
c.272C>A
1 paper
NM_004599.4
p.S91*
c.272C>G
1 paper
NM_004599.4
p.T93I
c.278C>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."