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.L12insFs

c.35_36insT

Surrounding Variants

3 papers

NM_000545.8

p.L12V

c.34C>G

5 papers

NM_000545.8

p.L12F

c.34C>T

23 papers

NM_000545.8

p.L12H

c.35T>A

1 paper

NM_000545.8

p.L12_L13insFs

c.36_37insC

1 paper

NM_000545.8

p.L13M

c.37C>A

1 paper

NM_000545.8

p.L13L

c.37C>T

1 paper

NM_000545.8

p.E11fs

c.31_32fs

2 papers

NM_000545.8

p.T10T

c.30G>A

1 paper

NM_000545.8

p.T10_E11insFs

c.30_31insAC

1 paper

NM_000545.8

p.L13R

c.38T>G

1 paper

NM_000545.8

p.A14delFs

c.40delG

1 paper

NM_000545.8

p.T10R

c.29C>G