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.P997S

c.2989C>T

Surrounding Variants

1 paper

NM_001003699.4

p.P997L

c.2990C>T

1 paper

NM_001003699.4

p.G984R

c.2950G>A

1 paper

NM_001003699.4

p.G984R

c.2950G>C

1 paper

NM_001003699.4

p.V981G

c.2942T>G

1 paper

NM_001003699.4

p.G964G

c.2892G>T

1 paper

NM_001003699.4

p.V1030M

c.3088G>A

1 paper

NM_001003699.4

p.E962K

c.2884G>A

1 paper

NM_001003699.4

p.G1038_A1040del3

c.3112_3119del9

2 papers

NM_001003699.4

p.R1046W

c.3136C>T

1 paper

NM_001003699.4

p.P1057S

c.3169C>T

1 paper

NM_001003699.4

p.E1060delFs

c.3178_3179delGA

1 paper

NM_001003699.4

p.E1060fs

c.3178_3179fs