Varaico: Literature-Extracted Genetic Variants

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.M191T

c.572T>C

Surrounding Variants

2 papers

NM_001003699.4

p.E193K

c.577G>A

1 paper

NM_001003699.4

p.E193*

c.577G>T

7 papers

NM_001003699.4

p.G195R

c.583G>A

7 papers

NM_001003699.4

p.G195R

c.583G>C

1 paper

NM_001003699.4

p.Q196*

c.586C>T

1 paper

NM_001003699.4

p.E201K

c.601G>A

1 paper

NM_001003699.4

p.E201*

c.601G>T

1 paper

NM_001003699.4

p.C210R

c.628T>C

1 paper

NM_001003699.4

p.K215R

c.644A>G

1 paper

NM_001003699.4

p.H230R

c.689A>G

1 paper

NM_001003699.4

p.S180_E181insFs

c.540_541insG

1 paper

NM_001003699.4

p.E179K

c.535G>A