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

2 papers

NM_000545.8

p.A14A

c.42G>T

Surrounding Variants

5 papers

NM_000545.8

p.A14A

c.42G>A

2 papers

NM_000545.8

p.A14_L17Fs

c.42_51delinsTGFs

2 papers

NM_000545.8

p.A14V

c.41C>T

2 papers

NM_000545.8

p.A15fs

c.43_44fs

1 paper

NM_000545.8

p.A15S

c.43G>T

1 paper

NM_000545.8

p.L16delFs

c.46delC

1 paper

NM_000545.8

p.A15D

c.44C>A

6 papers

NM_000545.8

p.A15V

c.44C>T

1 paper

NM_000545.8

p.L13L

c.39G>C

1 paper

NM_000545.8

p.L16M

c.46C>A

2 papers

NM_000545.8

p.L16V

c.46C>G

1 paper

NM_000545.8

p.L13R

c.38T>G