Varaico: Literature-Extracted Genetic Variants

Gene:RREB1
Variant:p.G782V

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
1 paper
NM_001003699.4
p.G782V
c.2345G>T
Surrounding Variants
2 papers
NM_001003699.4
p.G783V
c.2348G>T
1 paper
NM_001003699.4
p.P789T
c.2365C>A
1 paper
NM_001003699.4
p.T774insFs
c.2321_2322insA
1 paper
NM_001003699.4
p.T774fs
c.2320_2321fs
1 paper
NM_001003699.4
p.M772_R773insFs
c.2316_2319dup4
1 paper
NM_001003699.4
p.M772_H775delFs
c.2315_2325del11
1 paper
NM_001003699.4
p.K793N
c.2379G>C
1 paper
NM_001003699.4
p.K793N
c.2379G>T
1 paper
NM_001003699.4
p.A797A
c.2391C>T
1 paper
NM_001003699.4
p.A798T
c.2392G>A
1 paper
NM_001003699.4
p.F799F
c.2397C>T
1 paper
NM_001003699.4
p.A801V
c.2402C>T
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