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

3 papers

NM_000545.8

p.L26P

c.77T>C

Surrounding Variants

3 papers

NM_000545.8

p.L26Q

c.77T>A

1 paper

NM_000545.8

p.I27_P33del7

c.79_98del21

2 papers

NM_000545.8

p.L26L

c.76C>T

184 papers

NM_000545.8

p.I27L

c.79A>C

1 paper

NM_000545.8

p.A25A

c.75A>G

1 paper

NM_000545.8

p.I27V

c.79A>G

1 paper

NM_000545.8

p.I27F

c.79A>T

1 paper

NM_000545.8

p.A25E

c.74C>A

1 paper

NM_000545.8

p.I27T

c.80T>C

1 paper

NM_000545.8

p.I27S

c.80T>G

1 paper

NM_000545.8

p.Q28insFs

c.82dupC

1 paper

NM_000545.8

p.I27I

c.81C>T