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.F748L

c.2244C>G

Surrounding Variants

1 paper

NM_001003699.4

p.F748L

c.2244C>A

1 paper

NM_001003699.4

p.F748L

c.2242T>C

1 paper

NM_001003699.4

p.P751A

c.2251C>G

1 paper

NM_001003699.4

p.E743K

c.2227G>A

1 paper

NM_001003699.4

p.I734I

c.2202C>T

1 paper

NM_001003699.4

p.M772_H775delFs

c.2315_2325del11

1 paper

NM_001003699.4

p.M772_R773insFs

c.2316_2319dup4

1 paper

NM_001003699.4

p.K724E

c.2170A>G

1 paper

NM_001003699.4

p.T774fs

c.2320_2321fs

1 paper

NM_001003699.4

p.T774insFs

c.2321_2322insA

1 paper

NM_001003699.4

p.R719H

c.2156G>A

2 papers

NM_001003699.4

p.R716Q

c.2147G>A