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

4 papers

NM_000545.8

p.S145F

c.434C>T

Surrounding Variants

1 paper

NM_000545.8

p.Q146ins0

c.436_438dupCAA

1 paper

NM_000545.8

p.S145T

c.433T>A

1 paper

NM_000545.8

p.S145A

c.433T>G

1 paper

NM_000545.8

p.Q146insFs

c.436dupC

2 papers

NM_000545.8

p.Q146delFs

c.436delC

2 papers

NM_000545.8

p.Q146K

c.436C>A

3 papers

NM_000545.8

p.Q146fs

c.436_437fs

1 paper

NM_000545.8

p.Q146E

c.436C>G

1 paper

NM_000545.8

p.Q146*

c.436C>T

1 paper

NM_000545.8

p.Q146P

c.437A>C

5 papers

NM_000545.8

p.L144P

c.431T>C

1 paper

NM_000545.8

p.Q146H

c.438A>C