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.Q299_A300Splc

c.898-3T>C

Surrounding Variants

2 papers

NM_001003699.4

p.R315C

c.943C>T

1 paper

NM_001003699.4

p.A324A

c.972G>A

1 paper

NM_001003699.4

p.F325fs

c.973_974fs

1 paper

NM_001003699.4

p.F325delFs

c.975delC

1 paper

NM_001003699.4

p.L333P

c.998T>C

1 paper

NM_001003699.4

p.H338R

c.1013A>G

2 papers

NM_001003699.4

p.D342N

c.1024G>A

1 paper

NM_001003699.4

p.G344D

c.1031G>A

1 paper

NM_001003699.4

p.E346_K347del1

c.1038_1040delAAA

1 paper

NM_001003699.4

p.A357T

c.1069G>A

1 paper

NM_001003699.4

p.H371delFs

c.1112_1113delAC

1 paper

NM_001003699.4

p.Q392E

c.1174C>G