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

5 papers

NM_000545.8

p.P467L

c.1400C>T

Surrounding Variants

1 paper

NM_000545.8

p.Q466_P467insFs

c.1398_1399ins8

1 paper

NM_000545.8

p.Q466_P467ins4

c.1398_1399ins12

29 papers

NM_000545.8

p.Q466*

c.1396C>T

1 paper

NM_000545.8

p.H469insFs

c.1405dupC

10 papers

NM_000545.8

p.H469Y

c.1405C>T

1 paper

NM_000545.8

p.S465Y

c.1394C>A

1 paper

NM_000545.8

p.S465insFs

c.1394_1395ins8

1 paper

NM_000545.8

p.S465insFs

c.1394_1395ins4

2 papers

NM_000545.8

p.S465insFs

c.1394_1395ins8

1 paper

NM_000545.8

p.S465F

c.1394C>T

1 paper

NM_000545.8

p.P470insFs

c.1408_1409ins8

2 papers

NM_000545.8

p.F464F

c.1392C>T