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.P33P

c.99G>A

Surrounding Variants

2 papers

NM_000545.8

p.P33L

c.98C>T

2 papers

NM_000545.8

p.G34R

c.100G>A

2 papers

NM_000545.8

p.G34R

c.100G>C

2 papers

NM_000545.8

p.G34W

c.100G>T

1 paper

NM_000545.8

p.P33T

c.97C>A

1 paper

NM_000545.8

p.P33fs

c.97_98fs

1 paper

NM_000545.8

p.G34A

c.101G>C

2 papers

NM_000545.8

p.G34V

c.101G>T

1 paper

NM_000545.8

p.E32E

c.96G>A

3 papers

NM_000545.8

p.G34G

c.102G>C

1 paper

NM_000545.8

p.G34_P35insFs

c.102_103ins8

1 paper

NM_000545.8

p.E32D

c.96G>T