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

55 papers

NM_000545.8

p.R159Q

c.476G>A

Surrounding Variants

1 paper

NM_000545.8

p.R159R

c.475C>A

2 papers

NM_000545.8

p.R159fs

c.475_476fs

33 papers

NM_000545.8

p.R159W

c.475C>T

2 papers

NM_000545.8

p.R159fs

c.475_476fs

1 paper

NM_000545.8

p.R159R

c.477G>A

1 paper

NM_000545.8

p.R159R

c.477G>C

1 paper

NM_000545.8

p.A160T

c.478G>A

11 papers

NM_000545.8

p.K158N

c.474G>C

1 paper

NM_000545.8

p.K158_R159insFs

c.474_475insA

11 papers

NM_000545.8

p.K158N

c.474G>T

1 paper

NM_000545.8

p.K158_R159delins

c.474_475delinsCT

1 paper

NM_000545.8

p.A160delFs

c.480delC