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.E71_T82del12

c.211_245del36

Surrounding Variants

1 paper

NM_000545.8

p.E71_D72del1

c.213_215delGGA

2 papers

NM_000545.8

p.E71K

c.211G>A

1 paper

NM_000545.8

p.E71*

c.211G>T

1 paper

NM_000545.8

p.E71_D72insFs

c.213_214insT

1 paper

NM_000545.8

p.G69D

c.206G>A

1 paper

NM_000545.8

p.D72Y

c.214G>T

1 paper

NM_000545.8

p.S70_I85del16

c.208_254del48

1 paper

NM_000545.8

p.G69fs

c.205_206fs

1 paper

NM_000545.8

p.D72D

c.216C>T

1 paper

NM_000545.8

p.R68R

c.204G>A

1 paper

NM_000545.8

p.R68Q

c.203G>A

1 paper

NM_000545.8

p.E73K

c.217G>A