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

17 papers

NM_000545.8

p.A501Splc

c.1502-6G>A

Surrounding Variants

2 papers

NM_000545.8

p.A501Splc

c.1502-7C>T

2 papers

NM_000545.8

p.A501Splc

c.1502-2A>G

1 paper

NM_000545.8

p.A501Splc

c.1502-2A>T

2 papers

NM_000545.8

p.A501Splc

c.1502-1G>A

1 paper

NM_000545.8

p.A501Splc

c.1502-1G>C

1 paper

NM_000545.8

p.L502delFs

c.1504delC

1 paper

NM_000545.8

p.A501ins2

c.1502_1503ins6

1 paper

NM_000545.8

p.A501ins2

c.1502_1503ins6

1 paper

NM_000545.8

p.A501fs

c.1501_1502fs

1 paper

NM_000545.8

p.L502_Y503insFs

c.1506_1507dupCT

3 papers

NM_000545.8

p.L502fs

c.1504_1505fs

1 paper

NM_000545.8

p.L502V

c.1504C>G