Varaico: Literature-Extracted Genetic Variants

HNF1B

880 papers

RefSeq Summary

This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nucl...

Pfam Domains

HNF-1_Naa 8–174UCSCHepatocyte nuclear factor 1 (HNF-1), N terminus

HNF-1B_Caa 288–438UCSCHepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus

Gene Aliases

HGNC Name

HNF1 homeobox B

HGNC Alias Symbols

LFB3; VHNF1; HNF1beta; MODY5; HNF1β

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_000458.4

p.P280delFs

c.840delG

Surrounding Variants

1 paper

NM_000458.4

p.P280insFs

c.840dupC

1 paper

NM_000458.4

p.S281fs

c.841_842fs

2 papers

NM_000458.4

p.P280fs

c.838_839fs

1 paper

NM_000458.4

p.S279delFs

c.835_836delGA

1 paper

NM_000458.4

p.P280_K282delFs

c.840_844del5

1 paper

NM_000458.4

p.S279F

c.836C>T

2 papers

NM_000458.4

p.A283V

c.848C>T

1 paper

NM_000458.4

p.G277_A283insFs

c.831_849dup19

1 paper

NM_000458.4

p.H284fs

c.850_851fs

1 paper

NM_000458.4

p.C273_G277ins1

c.818_829dup12

3 papers

NM_000458.4

p.H284delFs

c.850delG

1 paper

NM_000458.4

p.H284fs

c.850_851fs