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

22 papers

NM_000545.8

p.P519L

c.1556C>T

Surrounding Variants

2 papers

NM_000545.8

p.Q520*

c.1558C>T

1 paper

NM_000545.8

p.L518V

c.1552C>G

1 paper

NM_000545.8

p.L518F

c.1552C>T

1 paper

NM_000545.8

p.T521A

c.1561A>G

1 paper

NM_000545.8

p.L518delFs

c.1552_1553delCT

6 papers

NM_000545.8

p.T521I

c.1562C>T

1 paper

NM_000545.8

p.L517fs

c.1549_1550fs

1 paper

NM_000545.8

p.T521T

c.1563T>A

4 papers

NM_000545.8

p.M522V

c.1564A>G

1 paper

NM_000545.8

p.G516D

c.1547G>A

1 paper

NM_000545.8

p.G516V

c.1547G>T

1 paper

NM_000545.8

p.M522I

c.1566G>A