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

2 papers

NM_000545.8

p.V246A

c.737T>C

Surrounding Variants

3 papers

NM_000545.8

p.V246G

c.737T>G

5 papers

NM_000545.8

p.V246L

c.736G>C

1 paper

NM_000545.8

p.V246fs

c.736_737fs

5 papers

NM_000545.8

p.V246L

c.736G>T

1 paper

NM_000545.8

p.V246fs

c.736_737fs

1 paper

NM_000545.8

p.V246_S247delFs

c.738_739delGT

5 papers

NM_000545.8

p.S247T

c.739T>A

1 paper

NM_000545.8

p.S247P

c.739T>C

1 paper

NM_000545.8

p.S247A

c.739T>G

1 paper

NM_000545.8

p.S247fs

c.739_740fs

1 paper

NM_000545.8

p.G245E

c.734G>A

4 papers

NM_000545.8

p.G245V

c.734G>T