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.N327K

c.981C>G

Surrounding Variants

2 papers

NM_000458.4

p.P328fs

c.982_983fs

1 paper

NM_000458.4

p.P328S

c.982C>T

3 papers

NM_000458.4

p.P328delFs

c.983delG

1 paper

NM_000458.4

p.L326P

c.977T>C

1 paper

NM_000458.4

p.P328del1

c.982_983delAGG

4 papers

NM_000458.4

p.P328_L329delFs

c.982_986del5

2 papers

NM_000458.4

p.H324_S325delFs

c.972_973delTG

2 papers

NM_000458.4

p.L330F

c.988C>T

2 papers

NM_000458.4

p.H332Y

c.994C>T

2 papers

NM_000458.4

p.T323insFs

c.967dupA

1 paper

NM_000458.4

p.Q322H

c.966G>T

1 paper

NM_000458.4

p.Q322fs

c.964_965fs