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.F215L

c.643T>C

Surrounding Variants

1 paper

NM_000545.8

p.L214L

c.642G>C

2 papers

NM_000545.8

p.F215F

c.645C>T

3 papers

NM_000545.8

p.L214Q

c.641T>A

1 paper

NM_000545.8

p.L214insFs

c.641_642ins10

1 paper

NM_000545.8

p.Q216insFs

c.646_647insG

7 papers

NM_000545.8

p.Q216*

c.646C>T

2 papers

NM_000545.8

p.I213M

c.639C>G

1 paper

NM_000545.8

p.Q216H

c.648G>T

1 paper

NM_000545.8

p.I213T

c.638T>C

1 paper

NM_000545.8

p.I213_L214insT

c.637_641ins3

2 papers

NM_000545.8

p.I213V

c.637A>G

2 papers

NM_000545.8

p.I213F

c.637A>T