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.M118V

c.352A>G

Surrounding Variants

1 paper

NM_000545.8

p.K117N

c.351G>C

1 paper

NM_000545.8

p.K117N

c.351G>T

1 paper

NM_000545.8

p.M118I

c.354G>A

1 paper

NM_000545.8

p.M118I

c.354G>C

1 paper

NM_000545.8

p.M118I

c.354G>T

9 papers

NM_000545.8

p.K117E

c.349A>G

1 paper

NM_000545.8

p.V119F

c.355G>T

1 paper

NM_000545.8

p.V119A

c.356T>C

10 papers

NM_000545.8

p.A116V

c.347C>T

4 papers

NM_000545.8

p.K120E

c.358A>G

1 paper

NM_000545.8

p.A116T

c.346G>A

1 paper

NM_000545.8

p.A116P

c.346G>C