Varaico: Literature-Extracted Genetic Variants

Gene:RREB1
Variant:p.D599G

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.D599G
c.1796A>G
Surrounding Variants
1 paper
NM_001003699.4
p.I614M
c.1842C>G
1 paper
NM_001003699.4
p.Q581H
c.1743G>C
1 paper
NM_001003699.4
p.Q581H
c.1743G>T
1 paper
NM_001003699.4
p.P571H
c.1712C>A
1 paper
NM_001003699.4
p.K633R
c.1898A>G
1 paper
NM_001003699.4
p.L550L
c.1650C>G
2 papers
NM_001003699.4
p.K548Q
c.1642A>C
1 paper
NM_001003699.4
p.S655L
c.1964C>T
2 papers
NM_001003699.4
p.S534F
c.1601C>T
1 paper
NM_001003699.4
p.I528I
c.1584C>T
1 paper
NM_001003699.4
p.C673Y
c.2018G>A
1 paper
NM_001003699.4
p.P515S
c.1543C>T
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