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.E18V

c.53A>T

Surrounding Variants

7 papers

NM_000545.8

p.E18K

c.52G>A

1 paper

NM_000545.8

p.E18fs

c.52_53fs

3 papers

NM_000545.8

p.E18*

c.52G>T

1 paper

NM_000545.8

p.S19_A25del0

c.55_75del21

1 paper

NM_000545.8

p.L17_E18insFs

c.51_52insCG

24 papers

NM_000545.8

p.L17L

c.51C>G

1 paper

NM_000545.8

p.S19fs

c.55_56fs

2 papers

NM_000545.8

p.S19*

c.56C>A

2 papers

NM_000545.8

p.S19*

c.56C>G

5 papers

NM_000545.8

p.S19L

c.56C>T

9 papers

NM_000545.8

p.L17H

c.50T>A

1 paper

NM_000545.8

p.L17P

c.50T>C