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.K222_N223del1

c.666_668delGAA

Surrounding Variants

1 paper

NM_000545.8

p.Q221L

c.662A>T

1 paper

NM_000545.8

p.R220K

c.659G>A

1 paper

NM_000545.8

p.K222delFs

c.665delA

1 paper

NM_000545.8

p.R220insFs

c.658_659insG

2 papers

NM_000545.8

p.K222E

c.664A>G

1 paper

NM_000545.8

p.R220W

c.658A>T

1 paper

NM_000545.8

p.E219D

c.657G>C

1 paper

NM_000545.8

p.E219D

c.657G>T

1 paper

NM_000545.8

p.E219G

c.656A>G

3 papers

NM_000545.8

p.K222N

c.666G>C

3 papers

NM_000545.8

p.K222N

c.666G>T

1 paper

NM_000545.8

p.Y218*

c.654T>A