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

4 papers

NM_000545.8

p.R168H

c.503G>A

Surrounding Variants

3 papers

NM_000545.8

p.R168P

c.503G>C

8 papers

NM_000545.8

p.R168C

c.502C>T

1 paper

NM_000545.8

p.K169delFs

c.505_506delAA

1 paper

NM_000545.8

p.K169E

c.505A>G

1 paper

NM_000545.8

p.V167A

c.500T>C

4 papers

NM_000545.8

p.V167I

c.499G>A

2 papers

NM_000545.8

p.Y166*

c.498C>A

2 papers

NM_000545.8

p.Y166*

c.498C>G

3 papers

NM_000545.8

p.Q170*

c.508C>T

1 paper

NM_000545.8

p.Y166F

c.497A>T

1 paper

NM_000545.8

p.Q170H

c.510G>C

1 paper

NM_000545.8

p.Q170H

c.510G>T