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.W267G

c.799T>G

Surrounding Variants

7 papers

NM_000545.8

p.W267R

c.799T>A

7 papers

NM_000545.8

p.W267R

c.799T>C

1 paper

NM_000545.8

p.N266K

c.798C>A

1 paper

NM_000545.8

p.N266K

c.798C>G

3 papers

NM_000545.8

p.W267*

c.800G>A

1 paper

NM_000545.8

p.W267S

c.800G>C

1 paper

NM_000545.8

p.W267_F268del1

c.801_803delGTT

1 paper

NM_000545.8

p.N266insFs

c.798dupC

3 papers

NM_000545.8

p.N266S

c.797A>G

3 papers

NM_000545.8

p.W267*

c.801G>A

1 paper

NM_000545.8

p.F268delFs

c.804delT

2 papers

NM_000545.8

p.F268I

c.802T>A