Varaico: Literature-Extracted Genetic Variants

HNF1A

2,115 papers

RefSeq Summary

The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrom...

Pfam Domains

HNF-1_Naa 8–168UCSCHepatocyte nuclear factor 1 (HNF-1), N terminus

HNF-1B_Caa 282–540UCSCHepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus

HNF-1A_Caa 542–630UCSCHepatocyte nuclear factor 1 (HNF-1), alpha isoform C terminus

Gene Aliases

HGNC Name

HNF1 homeobox A

HGNC Previous Symbol

MODY3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000545.8

p.Y122*

c.366C>A

Surrounding Variants

1 paper

NM_000545.8

p.Y122*

c.366C>G

20 papers

NM_000545.8

p.Y122C

c.365A>G

1 paper

NM_000545.8

p.Y122H

c.364T>C

1 paper

NM_000545.8

p.L123P

c.368T>C

1 paper

NM_000545.8

p.L123R

c.368T>G

1 paper

NM_000545.8

p.L123_Q124insFs

c.369_370dupGC

1 paper

NM_000545.8

p.Q125_H126ins0

c.375_377dupGCA

1 paper

NM_000545.8

p.Y122fs

c.364_365fs

1 paper

NM_000545.8

p.Q125_H126del1

c.375_377delGCA

1 paper

NM_000545.8

p.S121_Y122ins1

c.363_364insACA

1 paper

NM_000545.8

p.S121S

c.363C>T

5 papers

NM_000545.8

p.Q124*

c.370C>T