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.V1170V

c.3510G>C

Surrounding Variants

25 papers

NM_001003699.4

p.D1171N

c.3511G>A

1 paper

NM_001003699.4

p.G1169G

c.3507G>C

1 paper

NM_001003699.4

p.R1164P

c.3491G>C

1 paper

NM_001003699.4

p.E1182K

c.3544G>A

2 papers

NM_001003699.4

p.R1155Q

c.3464G>A

1 paper

NM_001003699.4

p.N1191insFs

c.3571_3572insC

1 paper

NM_001003699.4

p.P1195L

c.3584C>T

3 papers

NM_001003699.4

p.P1141R

c.3422C>G

1 paper

NM_001003699.4

p.P1141A

c.3421C>G

1 paper

NM_001003699.4

p.N1203S

c.3608A>G

1 paper

NM_001003699.4

p.T1114del1

c.3340_3342delACC

1 paper

NM_001003699.4

p.A1112_T1113del2

c.3334_3338del6