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

3 papers

NM_000545.8

p.T525T

c.1575C>T

Surrounding Variants

4 papers

NM_000545.8

p.T525S

c.1574C>G

2 papers

NM_000545.8

p.T525I

c.1574C>T

6 papers

NM_000545.8

p.D526N

c.1576G>A

1 paper

NM_000545.8

p.D526Y

c.1576G>T

4 papers

NM_000545.8

p.T525S

c.1573A>T

1 paper

NM_000545.8

p.T528I

c.1583C>T

1 paper

NM_000545.8

p.M522I

c.1566G>A

1 paper

NM_000545.8

p.N529fs

c.1585_1586fs

1 paper

NM_000545.8

p.N529T

c.1586A>C

4 papers

NM_000545.8

p.M522V

c.1564A>G

1 paper

NM_000545.8

p.N529_L530insFs

c.1587_1588insA

1 paper

NM_000545.8

p.T521T

c.1563T>A