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.L37P

c.110T>C

Surrounding Variants

1 paper

NM_000545.8

p.L37L

c.111C>A

1 paper

NM_000545.8

p.Y36*

c.108C>A

1 paper

NM_000545.8

p.Y36*

c.108C>G

1 paper

NM_000545.8

p.L38L

c.112C>T

1 paper

NM_000545.8

p.Y36insFs

c.107_108ins4

1 paper

NM_000545.8

p.L38P

c.113T>C

1 paper

NM_000545.8

p.A39delFs

c.115delG

1 paper

NM_000545.8

p.A39S

c.115G>T

1 paper

NM_000545.8

p.P35fs

c.103_104fs

1 paper

NM_000545.8

p.G40insFs

c.118_119insG

3 papers

NM_000545.8

p.G40delFs

c.119delG

1 paper

NM_000545.8

p.G40R

c.118G>A