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.Q495R

c.1484A>G

Surrounding Variants

1 paper

NM_000545.8

p.Q495L

c.1484A>T

1 paper

NM_000545.8

p.Q495fs

c.1483_1484fs

5 papers

NM_000545.8

p.Q495*

c.1483C>T

3 papers

NM_000545.8

p.Q495_Q497delFs

c.1484_1491del8

2 papers

NM_000545.8

p.L496fs

c.1486_1487fs

2 papers

NM_000545.8

p.A494D

c.1481C>A

1 paper

NM_000545.8

p.A494V

c.1481C>T

2 papers

NM_000545.8

p.Q497insFs

c.1489_1490insA

1 paper

NM_000545.8

p.Q497fs

c.1489_1490fs

2 papers

NM_000545.8

p.Q497*

c.1489C>T

1 paper

NM_000545.8

p.M493I

c.1479G>C

4 papers

NM_000545.8

p.S498R

c.1492A>C