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.L307delFs

c.919delC

Surrounding Variants

1 paper

NM_000545.8

p.G306A

c.917G>C

3 papers

NM_000545.8

p.G306V

c.917G>T

1 paper

NM_000545.8

p.G306fs

c.916_917fs

1 paper

NM_000545.8

p.L307fs

c.919_920fs

1 paper

NM_000545.8

p.L307L

c.919C>T

1 paper

NM_000545.8

p.P305_G306insFs

c.915_916insC

1 paper

NM_000545.8

p.G306delFs

c.917delG

1 paper

NM_000545.8

p.L307P

c.920T>C

1 paper

NM_000545.8

p.P305T

c.913C>A

1 paper

NM_000545.8

p.P305S

c.913C>T

1 paper

NM_000545.8

p.P305fs

c.913_914fs

1 paper

NM_000545.8

p.P308S

c.922C>T