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.G181W

c.541G>T

Surrounding Variants

2 papers

NM_000545.8

p.G181R

c.541G>A

1 paper

NM_000545.8

p.G181R

c.541G>C

1 paper

NM_000545.8

p.A180_G181insFs

c.540_541insG

2 papers

NM_000545.8

p.G181delFs

c.543delG

1 paper

NM_000545.8

p.G181E

c.542G>A

1 paper

NM_000545.8

p.G181A

c.542G>C

5 papers

NM_000545.8

p.A180V

c.539C>T

2 papers

NM_000545.8

p.Q182fs

c.544_545fs

5 papers

NM_000545.8

p.Q182*

c.544C>T

1 paper

NM_000545.8

p.G183_G184delFs

c.549_552del4

4 papers

NM_000545.8

p.A180P

c.538G>C

1 paper

NM_000545.8

p.G183delFs

c.547delG