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

1–12 of 2059 variants

184 papers

NM_000545.8

p.I27L

c.79A>C

95 papers

NM_000545.8

p.A98V

c.293C>T

93 papers

NM_000545.8

p.S487N

c.1460G>A

92 papers

NM_000545.8

p.P291insFs

c.872dupC

91 papers

NM_000545.8

p.G319S

c.955G>A

84 papers

NM_000545.8

p.P447L

c.1340C>T

65 papers

NM_000545.8

p.R131Q

c.392G>A

63 papers

NM_000545.8

p.R272H

c.815G>A

59 papers

NM_000545.8

p.R131W

c.391C>T

56 papers

NM_000545.8

p.E508K

c.1522G>A

55 papers

NM_000545.8

p.R159Q

c.476G>A

52 papers

NM_000545.8

p.P291fs

c.871_872fs