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.Q125H

c.375G>C

Surrounding Variants

1 paper

NM_000545.8

p.Q125Q

c.375G>A

4 papers

NM_000545.8

p.Q125H

c.375G>T

1 paper

NM_000545.8

p.Q125delFs

c.375delG

11 papers

NM_000545.8

p.H126D

c.376C>G

1 paper

NM_000545.8

p.H126Y

c.376C>T

3 papers

NM_000545.8

p.N127del1

c.379_380delAAC

3 papers

NM_000545.8

p.Q125*

c.373C>T

1 paper

NM_000545.8

p.Q124Q

c.372G>A

1 paper

NM_000545.8

p.Q124H

c.372G>C

1 paper

NM_000545.8

p.Q124H

c.372G>T

1 paper

NM_000545.8

p.Q124P

c.371A>C

4 papers

NM_000545.8

p.N127Y

c.379A>T