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.A209E

c.626C>A

Surrounding Variants

1 paper

NM_000545.8

p.A209A

c.627A>C

1 paper

NM_000545.8

p.A209A

c.627A>T

1 paper

NM_000545.8

p.A209T

c.625G>A

2 papers

NM_000545.8

p.P208P

c.624A>G

2 papers

NM_000545.8

p.S210T

c.628T>A

1 paper

NM_000545.8

p.S210fs

c.628_629fs

2 papers

NM_000545.8

p.S210Y

c.629C>A

6 papers

NM_000545.8

p.S210F

c.629C>T

1 paper

NM_000545.8

p.S210_I213delFs

c.630_637del8

1 paper

NM_000545.8

p.S210_F215del0

c.630_644del15

1 paper

NM_000545.8

p.P208S

c.622C>T

1 paper

NM_000545.8

p.Q211del1

c.631_633delCAG