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

3 papers

NM_000545.8

p.G288R

c.862G>C

Surrounding Variants

3 papers

NM_000545.8

p.G288R

c.862G>A

12 papers

NM_000545.8

p.G288fs

c.862_863fs

11 papers

NM_000545.8

p.G288W

c.862G>T

2 papers

NM_000545.8

p.G288_L299delFs

c.864_897del34

2 papers

NM_000545.8

p.G288_P289insFs

c.864_865insG

1 paper

NM_000545.8

p.S287S

c.861C>T

24 papers

NM_000545.8

p.G288delFs

c.862delG

21 papers

NM_000545.8

p.G288insFs

c.863_864insC

1 paper

NM_000545.8

p.S287N

c.860G>A

22 papers

NM_000545.8

p.G288G

c.864G>C

9 papers

NM_000545.8

p.G288Fs

c.864delinsCCFs

92 papers

NM_000545.8

p.P291insFs

c.872dupC