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

5 papers

NM_000545.8

p.L107V

c.319C>G

Surrounding Variants

15 papers

NM_000545.8

p.L107I

c.319C>A

1 paper

NM_000545.8

p.L107F

c.319C>T

1 paper

NM_000545.8

p.L107P

c.320T>C

10 papers

NM_000545.8

p.L107R

c.320T>G

1 paper

NM_000545.8

p.T106N

c.317C>A

1 paper

NM_000545.8

p.T106S

c.317C>G

1 paper

NM_000545.8

p.L108P

c.323T>C

2 papers

NM_000545.8

p.L108R

c.323T>G

1 paper

NM_000545.8

p.E105G

c.314A>G

1 paper

NM_000545.8

p.E105V

c.314A>T

4 papers

NM_000545.8

p.Q109*

c.325C>T

1 paper

NM_000545.8

p.Q109delFs

c.326delA