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

3 papers

NM_000545.8

p.E88E

c.264G>A

Surrounding Variants

1 paper

NM_000545.8

p.E88_L89insFs

c.264_265insC

2 papers

NM_000545.8

p.L89L

c.265C>T

1 paper

NM_000545.8

p.E88*

c.262G>T

2 papers

NM_000545.8

p.K87K

c.261A>G

1 paper

NM_000545.8

p.E88delFs

c.262delG

1 paper

NM_000545.8

p.K87R

c.260A>G

1 paper

NM_000545.8

p.E90G

c.269A>G

2 papers

NM_000545.8

p.K87*

c.259A>T

1 paper

NM_000545.8

p.E90delFs

c.270delG

1 paper

NM_000545.8

p.L86H

c.257T>A

2 papers

NM_000545.8

p.L86fs

c.256_257fs

1 paper

NM_000545.8

p.I85_L86insFs

c.255_256insG