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

8 papers

NM_000458.4

p.M1I

c.3G>T

Surrounding Variants

11 papers

NM_000458.4

p.M1insFs

c.2_3insT

5 papers

NM_000458.4

p.M1I

c.3G>C

6 papers

NM_000458.4

p.M1I

c.3G>A

1 paper

NM_000458.4

p.M1delFs

c.2delA

1 paper

NM_000458.4

p.M1insFs

c.2_3insG

1 paper

NM_000458.4

p.M1R

c.2T>G

1 paper

NM_000458.4

p.M1T

c.2T>C

1 paper

NM_000458.4

p.M1K

c.2T>A

1 paper

NM_000458.4

p.V2insFs

c.5_6ins5

1 paper

NM_000458.4

p.M1_V2delFs

c.1_4del4

1 paper

NM_000458.4

p.M1insFs

c.1_2insG

1 paper

NM_000458.4

p.M1_V2insG

c.1_5ins3