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

1 paper

NM_000458.4

p.T292S

c.874A>T

Surrounding Variants

2 papers

NM_000458.4

p.V291_T292insFs

c.873_874insC

1 paper

NM_000458.4

p.V291insFs

c.872_873insC

1 paper

NM_000458.4

p.V291_T292delFs

c.873_874delTG

1 paper

NM_000458.4

p.E293K

c.877G>A

1 paper

NM_000458.4

p.L290F

c.870G>T

1 paper

NM_000458.4

p.L290F

c.870G>C

1 paper

NM_000458.4

p.N289_L290Fs

c.865_870delinsGTFs

1 paper

NM_000458.4

p.L290*

c.869T>A

1 paper

NM_000458.4

p.E293D

c.879G>C

1 paper

NM_000458.4

p.E293_V294Fs

c.879_880delinsAFs

1 paper

NM_000458.4

p.N289K

c.867C>G

1 paper

NM_000458.4

p.V294fs

c.880_881fs