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.Q511R

c.1532A>G

Surrounding Variants

4 papers

NM_000545.8

p.Q511L

c.1532A>T

1 paper

NM_000545.8

p.Q511E

c.1531C>G

1 paper

NM_000545.8

p.Q511Q

c.1533G>A

1 paper

NM_000545.8

p.Y512_T513del2

c.1534_1538del6

1 paper

NM_000545.8

p.A510T

c.1528G>A

3 papers

NM_000545.8

p.T513S

c.1537A>T

3 papers

NM_000545.8

p.T513S

c.1538C>G

1 paper

NM_000545.8

p.V509A

c.1526T>C

5 papers

NM_000545.8

p.T513T

c.1539C>T

1 paper

NM_000545.8

p.H514insFs

c.1541dupA

1 paper

NM_000545.8

p.H514fs

c.1540_1541fs

1 paper

NM_000545.8

p.H514Y

c.1540C>T