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

1 paper

NM_000545.8

p.I186_E188del0

c.557_562del6

Surrounding Variants

2 papers

NM_000545.8

p.I186T

c.557T>C

1 paper

NM_000545.8

p.E187_D192del0

c.559_576del18

1 paper

NM_000545.8

p.E187delFs

c.559delG

1 paper

NM_000545.8

p.E187_P189delFs

c.559_565del7

1 paper

NM_000545.8

p.E187_E193delFs

c.559_577del19

1 paper

NM_000545.8

p.L185V

c.553C>G

1 paper

NM_000545.8

p.L185_G191delFs

c.555_573del19

1 paper

NM_000545.8

p.E187*

c.559G>T

1 paper

NM_000545.8

p.L185_L194del10

c.553_581del30

1 paper

NM_000545.8

p.G184E

c.551G>A

1 paper

NM_000545.8

p.E188*

c.562G>T

2 papers

NM_000545.8

p.G183E

c.548G>A