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.P291insFs

c.873dupA

Surrounding Variants

2 papers

NM_000545.8

p.P291Q

c.872C>A

6 papers

NM_000545.8

p.P291R

c.872C>G

2 papers

NM_000545.8

p.P291L

c.872C>T

7 papers

NM_000545.8

p.P291delFs

c.873delA

4 papers

NM_000545.8

p.P291_G292insFs

c.873_874insC

2 papers

NM_000545.8

p.G292delFs

c.876delG

5 papers

NM_000545.8

p.P291T

c.871C>A

1 paper

NM_000545.8

p.P291insFs

c.871_872insA

52 papers

NM_000545.8

p.P291fs

c.871_872fs

8 papers

NM_000545.8

p.P291S

c.871C>T

21 papers

NM_000545.8

p.P291fs

c.871_872fs

1 paper

NM_000545.8

p.P290P

c.870C>T