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.F268L

c.804T>G

Surrounding Variants

1 paper

NM_000545.8

p.F268L

c.804T>A

2 papers

NM_000545.8

p.A269P

c.805G>C

5 papers

NM_000545.8

p.F268S

c.803T>C

3 papers

NM_000545.8

p.F268C

c.803T>G

2 papers

NM_000545.8

p.A269D

c.806C>A

3 papers

NM_000545.8

p.A269V

c.806C>T

2 papers

NM_000545.8

p.F268I

c.802T>A

1 paper

NM_000545.8

p.F268L

c.802T>C

3 papers

NM_000545.8

p.W267*

c.801G>A

1 paper

NM_000545.8

p.F268delFs

c.804delT

1 paper

NM_000545.8

p.N270D

c.808A>G

3 papers

NM_000545.8

p.W267*

c.800G>A