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.Q243K

c.727C>A

Surrounding Variants

5 papers

NM_000545.8

p.Q243E

c.727C>G

1 paper

NM_000545.8

p.R244_G245delFs

c.732_733delAG

1 paper

NM_000545.8

p.Q243delFs

c.729delG

1 paper

NM_000545.8

p.Q243Q

c.729G>A

1 paper

NM_000545.8

p.I242T

c.725T>C

7 papers

NM_000545.8

p.R244G

c.730A>G

1 paper

NM_000545.8

p.I242V

c.724A>G

2 papers

NM_000545.8

p.I242F

c.724A>T

1 paper

NM_000545.8

p.R244*

c.730A>T

2 papers

NM_000545.8

p.I242fs

c.724_725fs

2 papers

NM_000545.8

p.C241*

c.723C>A

2 papers

NM_000545.8

p.R244I

c.731G>T