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

3 papers

NM_000545.8

p.Q250P

c.749A>C

Surrounding Variants

1 paper

NM_000545.8

p.Q250fs

c.748_749fs

7 papers

NM_000545.8

p.Q250*

c.748C>T

1 paper

NM_000545.8

p.S249S

c.747A>G

1 paper

NM_000545.8

p.Q250del1

c.748_749delCAG

8 papers

NM_000545.8

p.A251T

c.751G>A

1 paper

NM_000545.8

p.S249*

c.746C>A

1 paper

NM_000545.8

p.S249*

c.746C>G

2 papers

NM_000545.8

p.A251V

c.752C>T

2 papers

NM_000545.8

p.S249_G255del0

c.747_764del18

1 paper

NM_000545.8

p.Q252insFs

c.754dupC

1 paper

NM_000545.8

p.A251A

c.753A>G

2 papers

NM_000545.8

p.S249P

c.745T>C