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

7 papers

NM_000545.8

p.H505N

c.1513C>A

Surrounding Variants

3 papers

NM_000545.8

p.S504R

c.1512C>A

3 papers

NM_000545.8

p.S504R

c.1512C>G

1 paper

NM_000545.8

p.S504N

c.1511G>A

3 papers

NM_000545.8

p.S504R

c.1510A>C

1 paper

NM_000545.8

p.K506R

c.1517A>G

1 paper

NM_000545.8

p.Y503*

c.1509C>A

2 papers

NM_000545.8

p.Y503*

c.1509C>G

1 paper

NM_000545.8

p.Y503fs

c.1507_1508fs

1 paper

NM_000545.8

p.E508delFs

c.1523_1524delAG

3 papers

NM_000545.8

p.L502fs

c.1504_1505fs

1 paper

NM_000545.8

p.L502V

c.1504C>G

56 papers

NM_000545.8

p.E508K

c.1522G>A