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.G255del1

c.763_764delGGC

Surrounding Variants

1 paper

NM_000545.8

p.G255_N257del3

c.763_770del9

2 papers

NM_000545.8

p.G255S

c.763G>A

5 papers

NM_000545.8

p.L254Q

c.761T>A

1 paper

NM_000545.8

p.L254P

c.761T>C

1 paper

NM_000545.8

p.L254R

c.761T>G

4 papers

NM_000545.8

p.L254M

c.760C>A

1 paper

NM_000545.8

p.L254insFs

c.760_761insA

1 paper

NM_000545.8

p.G253G

c.759G>T

4 papers

NM_000545.8

p.G253E

c.758G>A

1 paper

NM_000545.8

p.G253A

c.758G>C

4 papers

NM_000545.8

p.S256T

c.766T>A

2 papers

NM_000545.8

p.S256delFs

c.768delC