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.D75E

c.225C>A

Surrounding Variants

1 paper

NM_000545.8

p.D75E

c.225C>G

1 paper

NM_000545.8

p.D75insFs

c.224_225ins10

1 paper

NM_000545.8

p.D75A

c.224A>C

4 papers

NM_000545.8

p.D76N

c.226G>A

1 paper

NM_000545.8

p.D76Y

c.226G>T

1 paper

NM_000545.8

p.D75N

c.223G>A

1 paper

NM_000545.8

p.D76D

c.228C>T

2 papers

NM_000545.8

p.T74T

c.222G>T

3 papers

NM_000545.8

p.T74M

c.221C>T

1 paper

NM_000545.8

p.D77N

c.229G>A

1 paper

NM_000545.8

p.D77H

c.229G>C

1 paper

NM_000545.8

p.E73D

c.219G>C