Varaico: Literature-Extracted Genetic Variants

Gene:SREBF2
Variant:p.P98P

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.P98P
c.294T>C
Surrounding Variants
1 paper
NM_004599.4
p.T96I
c.287C>T
1 paper
NM_004599.4
p.P102S
c.304C>T
1 paper
NM_004599.4
p.T93I
c.278C>T
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.P107S
c.319C>T
1 paper
NM_004599.4
p.T111T
c.333T>C
1 paper
NM_004599.4
p.D85N
c.253G>A
1 paper
NM_004599.4
p.V114A
c.341T>C
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.G76C
c.226G>T
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