Varaico: Literature-Extracted Genetic Variants

Gene:SREBF2
Variant:p.G595C

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.G595C
c.1783G>T
Surrounding Variants
1 paper
NM_004599.4
p.G595S
c.1783G>A
32 papers
NM_004599.4
p.G595A
c.1784G>C
1 paper
NM_004599.4
p.Q598H
c.1794A>C
1 paper
NM_004599.4
p.Q598H
c.1794A>T
1 paper
NM_004599.4
p.L604W
c.1811T>G
1 paper
NM_004599.4
p.R612H
c.1835G>A
1 paper
NM_004599.4
p.A616S
c.1846G>T
2 papers
NM_004599.4
p.V623M
c.1867G>A
1 paper
NM_004599.4
p.R635H
c.1904G>A
1 paper
NM_004599.4
p.L638F
c.1912C>T
1 paper
NM_004599.4
p.C644S
c.1930T>A
1 paper
NM_004599.4
p.C644S
c.1931G>C
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