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

10 papers

NM_000545.8

p.A311D

c.932C>A

Surrounding Variants

1 paper

NM_000545.8

p.A311V

c.932C>T

1 paper

NM_000545.8

p.A311fs

c.931_932fs

1 paper

NM_000545.8

p.L312I

c.934C>A

4 papers

NM_000545.8

p.L312F

c.934C>T

1 paper

NM_000545.8

p.P310L

c.929C>T

2 papers

NM_000545.8

p.L312delFs

c.936delC

2 papers

NM_000545.8

p.P310T

c.928C>A

1 paper

NM_000545.8

p.S313T

c.937T>A

1 paper

NM_000545.8

p.P314delFs

c.942delC

1 paper

NM_000545.8

p.S313fs

c.937_938fs

1 paper

NM_000545.8

p.P314del1

c.940_941delCCC

1 paper

NM_000545.8

p.P309L

c.926C>T