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.S315insFs

c.944_945insA

Surrounding Variants

2 papers

NM_000545.8

p.S315N

c.944G>A

1 paper

NM_000545.8

p.S315fs

c.943_944fs

1 paper

NM_000545.8

p.S315fs

c.943_944fs

1 paper

NM_000545.8

p.S315_K316insFs

c.945_946insA

1 paper

NM_000545.8

p.S315_K316delFs

c.945_948del4

1 paper

NM_000545.8

p.P314H

c.941C>A

1 paper

NM_000545.8

p.P314L

c.941C>T

3 papers

NM_000545.8

p.P314S

c.940C>T

1 paper

NM_000545.8

p.V317insFs

c.949_950insA

1 paper

NM_000545.8

p.S313F

c.938C>T

1 paper

NM_000545.8

p.V317_H318insFs

c.951_954dup4

1 paper

NM_000545.8

p.S313T

c.937T>A