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

2 papers

NM_000545.8

p.D135A

c.404A>C

Surrounding Variants

3 papers

NM_000545.8

p.D135N

c.403G>A

3 papers

NM_000545.8

p.D135fs

c.403_404fs

6 papers

NM_000545.8

p.D135delFs

c.404delA

3 papers

NM_000545.8

p.D135fs

c.403_404fs

1 paper

NM_000545.8

p.T136insFs

c.406dupA

1 paper

NM_000545.8

p.T136fs

c.406_407fs

2 papers

NM_000545.8

p.V134V

c.402C>T

1 paper

NM_000545.8

p.T136I

c.407C>T

1 paper

NM_000545.8

p.D135_T136del2

c.403_407del6

1 paper

NM_000545.8

p.V134I

c.400G>A

1 paper

NM_000545.8

p.T137A

c.409A>G

2 papers

NM_000545.8

p.T137S

c.409A>T