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.M154I

c.462G>T

Surrounding Variants

4 papers

NM_000545.8

p.M154I

c.462G>A

1 paper

NM_000545.8

p.M154I

c.462G>C

1 paper

NM_000545.8

p.K155_T156insG

c.463_467ins3

3 papers

NM_000545.8

p.M154T

c.461T>C

2 papers

NM_000545.8

p.M154R

c.461T>G

1 paper

NM_000545.8

p.M154insFs

c.460_461ins17

2 papers

NM_000545.8

p.M154V

c.460A>G

1 paper

NM_000545.8

p.K155R

c.464A>G

1 paper

NM_000545.8

p.P153_M154insFs

c.459_460insTA

1 paper

NM_000545.8

p.K155N

c.465G>C

1 paper

NM_000545.8

p.K155N

c.465G>T

1 paper

NM_000545.8

p.T156A

c.466A>G