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.G296R

c.886G>A

Surrounding Variants

1 paper

NM_000545.8

p.G296R

c.886G>C

1 paper

NM_000545.8

p.G296*

c.886G>T

1 paper

NM_000545.8

p.G296V

c.887G>T

1 paper

NM_000545.8

p.P297_A298ins4

c.889_893ins12

2 papers

NM_000545.8

p.P295S

c.883C>T

1 paper

NM_000545.8

p.P297S

c.889C>T

1 paper

NM_000545.8

p.P297L

c.890C>T

1 paper

NM_000545.8

p.G294D

c.881G>A

1 paper

NM_000545.8

p.G294A

c.881G>C

1 paper

NM_000545.8

p.G294V

c.881G>T

1 paper

NM_000545.8

p.A298insFs

c.892dupG

1 paper

NM_000545.8

p.A298P

c.892G>C