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

41 papers

NM_000545.8

p.R229*

c.685C>T

Surrounding Variants

4 papers

NM_000545.8

p.R229G

c.685C>G

2 papers

NM_000545.8

p.E230_T231delFs

c.690_691delGA

2 papers

NM_000545.8

p.R229_C236del0

c.687_707del21

43 papers

NM_000545.8

p.R229Q

c.686G>A

1 paper

NM_000545.8

p.E228E

c.684G>A

9 papers

NM_000545.8

p.R229P

c.686G>C

1 paper

NM_000545.8

p.R229insFs

c.685_686insC

1 paper

NM_000545.8

p.E228G

c.683A>G

2 papers

NM_000545.8

p.E228K

c.682G>A

2 papers

NM_000545.8

p.E230fs

c.688_689fs

1 paper

NM_000545.8

p.E228fs

c.682_683fs

3 papers

NM_000545.8

p.E228*

c.682G>T