Varaico: Literature-Extracted Genetic Variants

Gene:RREB1
Variant:p.N273S

RREB1

205 papers

RefSeq Summary

The protein encoded by this gene is a zinc finger transcription factor that binds to RAS-responsive elements (RREs) of gene promoters. It has been shown that the calcitonin gene promoter contains an R...

Pfam Domains

zf-C2H2aa 66–88UCSCZinc finger, C2H2 type
zf-C2H2aa 97–119UCSCZinc finger, C2H2 type
zf-C2H2aa 125–147UCSCZinc finger, C2H2 type
zf-C2H2_6aa 315–341UCSCC2H2-type zinc finger
zf-C2H2aa 671–693UCSCZinc finger, C2H2 type
zf-C2H2aa 1246–1268UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

ras responsive element binding protein 1

HGNC Alias Symbol

HNT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001003699.4
p.N273S
c.818A>G
Surrounding Variants
1 paper
NM_001003699.4
p.A279P
c.835G>C
1 paper
NM_001003699.4
p.D283_G285delFs
c.849_855del7
1 paper
NM_001003699.4
p.L284fs
c.850_851fs
1 paper
NM_001003699.4
p.L284S
c.851T>C
1 paper
NM_001003699.4
p.L284_G285delFs
c.852_855del4
1 paper
NM_001003699.4
p.G285R
c.853G>A
1 paper
NM_001003699.4
p.G285R
c.853G>C
1 paper
NM_001003699.4
p.G285V
c.854G>T
1 paper
NM_001003699.4
p.L256F
c.766C>T
1 paper
NM_001003699.4
p.A255T
c.763G>A
1 paper
NM_001003699.4
p.N254N
c.762C>T
1 paper
NM_001003699.4
p.R248Q
c.743G>A
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