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.Y218*

c.654T>G

Surrounding Variants

1 paper

NM_000545.8

p.Y218*

c.654T>A

1 paper

NM_000545.8

p.R220delFs

c.658_659delAG

13 papers

NM_000545.8

p.Y218C

c.653A>G

1 paper

NM_000545.8

p.Y218F

c.653A>T

1 paper

NM_000545.8

p.E219G

c.656A>G

2 papers

NM_000545.8

p.A217A

c.651C>G

1 paper

NM_000545.8

p.E219D

c.657G>C

1 paper

NM_000545.8

p.E219D

c.657G>T

1 paper

NM_000545.8

p.R220insFs

c.658_659insG

1 paper

NM_000545.8

p.R220W

c.658A>T

1 paper

NM_000545.8

p.A217G

c.650C>G

1 paper

NM_000545.8

p.A217V

c.650C>T