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

15 papers

NM_000545.8

p.Q176Splc

c.526+1G>A

Surrounding Variants

3 papers

NM_000545.8

p.Q176Splc

c.526+1G>C

4 papers

NM_000545.8

p.Q176Splc

c.526+1G>T

22 papers

NM_000545.8

p.Q176*

c.526C>T

1 paper

NM_000545.8

p.Q176H

c.528G>C

1 paper

NM_000545.8

p.Q176H

c.528G>T

1 paper

NM_000545.8

p.Q176Splc

c.526+4A>G

2 papers

NM_000545.8

p.Q175E

c.523C>G

3 papers

NM_000545.8

p.Q175*

c.523C>T

3 papers

NM_000545.8

p.Q176Splc

c.526+5G>A

11 papers

NM_000545.8

p.A174V

c.521C>T

1 paper

NM_000545.8

p.A174S

c.520G>T

1 paper

NM_000545.8

p.V173A

c.518T>C