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

50 papers

NM_000545.8

p.T260M

c.779C>T

Surrounding Variants

1 paper

NM_000545.8

p.T260A

c.778A>G

2 papers

NM_000545.8

p.T260S

c.778A>T

1 paper

NM_000545.8

p.T260T

c.780G>C

1 paper

NM_000545.8

p.T260_E261delins

c.780_781delinsAA

7 papers

NM_000545.8

p.E261K

c.781G>A

8 papers

NM_000545.8

p.V259D

c.776T>A

4 papers

NM_000545.8

p.V259I

c.775G>A

2 papers

NM_000545.8

p.V259L

c.775G>C

4 papers

NM_000545.8

p.V259F

c.775G>T

1 paper

NM_000545.8

p.L258L

c.774C>T

1 paper

NM_000545.8

p.V262M

c.784G>A

1 paper

NM_000545.8

p.V262insFs

c.785_786insT