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

95 papers

NM_000545.8

p.A98V

c.293C>T

Surrounding Variants

1 paper

NM_000545.8

p.A98D

c.293C>A

1 paper

NM_000545.8

p.A98A

c.294C>A

1 paper

NM_000545.8

p.A98A

c.294C>G

1 paper

NM_000545.8

p.A98_Q100Fs

c.292_300delinsACFs

1 paper

NM_000545.8

p.H99_Q100insFs

c.297_298ins4

3 papers

NM_000545.8

p.A97_A98insFs

c.291_292insC

3 papers

NM_000545.8

p.A97V

c.290C>T

1 paper

NM_000545.8

p.A97delFs

c.291delG

4 papers

NM_000545.8

p.Q100K

c.298C>A

1 paper

NM_000545.8

p.Q100insFs

c.298_299ins4

1 paper

NM_000545.8

p.Q100*

c.298C>T

3 papers

NM_000545.8

p.E96D

c.288G>C