Varaico: Literature-Extracted Genetic Variants

Gene:SREBF2
Variant:p.S52Fs

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.S52Fs
c.154delinsTTCTGCAAACTCCTFs
Surrounding Variants
1 paper
NM_004599.4
p.S52S
c.156C>T
2 papers
NM_004599.4
p.E48K
c.142G>A
1 paper
NM_004599.4
p.E41Q
c.121G>C
1 paper
NM_004599.4
p.G40E
c.119G>A
2 papers
NM_004599.4
p.G68delFs
c.202delG
1 paper
NM_004599.4
p.S74del1
c.220_221delAGC
1 paper
NM_004599.4
p.F34F
c.102T>C
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.D85N
c.253G>A
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