Varaico: Literature-Extracted Genetic Variants

Gene:SREBF2
Variant:p.R519L

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.R519L
c.1556G>T
Surrounding Variants
1 paper
NM_004599.4
p.R519H
c.1556G>A
1 paper
NM_004599.4
p.R519G
c.1555C>G
1 paper
NM_004599.4
p.S517F
c.1550C>T
1 paper
NM_004599.4
p.G516V
c.1547G>T
1 paper
NM_004599.4
p.G516R
c.1546G>C
1 paper
NM_004599.4
p.D510N
c.1528G>A
2 papers
NM_004599.4
p.W503G
c.1507T>G
1 paper
NM_004599.4
p.P496S
c.1486C>T
1 paper
NM_004599.4
p.L492I
c.1474C>A
1 paper
NM_004599.4
p.L474L
c.1420C>T
1 paper
NM_004599.4
p.S469S
c.1407T>C
1 paper
NM_004599.4
p.G527Splc
c.1580-1G>C
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