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.E44delFs

c.130delC

Surrounding Variants

2 papers

NM_000458.4

p.E44*

c.130G>T

4 papers

NM_000458.4

p.E44K

c.130G>A

1 paper

NM_000458.4

p.T45A

c.133A>G

1 paper

NM_000458.4

p.L43R

c.128T>G

1 paper

NM_000458.4

p.T45M

c.134C>T

1 paper

NM_000458.4

p.L43L

c.127C>T

1 paper

NM_000458.4

p.K42R

c.125A>G

1 paper

NM_000458.4

p.P47S

c.139C>T

1 paper

NM_000458.4

p.L46delFs

c.138delC

1 paper

NM_000458.4

p.G40delFs

c.119delC

1 paper

NM_000458.4

p.P47L

c.140C>T

1 paper

NM_000458.4

p.V41insFs

c.121_122insAG