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.S121_N127delFs

c.363_379del17

Surrounding Variants

1 paper

NM_000545.8

p.S121_Y122ins1

c.363_364insACA

1 paper

NM_000545.8

p.S121S

c.363C>T

3 papers

NM_000545.8

p.S121P

c.361T>C

2 papers

NM_000545.8

p.K120N

c.360G>C

2 papers

NM_000545.8

p.K120N

c.360G>T

1 paper

NM_000545.8

p.Y122H

c.364T>C

1 paper

NM_000545.8

p.Y122fs

c.364_365fs

20 papers

NM_000545.8

p.Y122C

c.365A>G

4 papers

NM_000545.8

p.K120E

c.358A>G

1 paper

NM_000545.8

p.Y122*

c.366C>A

1 paper

NM_000545.8

p.Y122*

c.366C>G

1 paper

NM_000545.8

p.V119A

c.356T>C