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.Y265D

c.793T>G

Surrounding Variants

3 papers

NM_000545.8

p.Y265C

c.794A>G

1 paper

NM_000545.8

p.Y265F

c.794A>T

1 paper

NM_000545.8

p.V264V

c.792C>T

2 papers

NM_000545.8

p.V264A

c.791T>C

1 paper

NM_000545.8

p.V264I

c.790G>A

1 paper

NM_000545.8

p.V264fs

c.790_791fs

3 papers

NM_000545.8

p.V264F

c.790G>T

1 paper

NM_000545.8

p.N266insFs

c.798dupC

3 papers

NM_000545.8

p.N266S

c.797A>G

1 paper

NM_000545.8

p.N266K

c.798C>A

1 paper

NM_000545.8

p.N266K

c.798C>G

33 papers

NM_000545.8

p.R263H

c.788G>A