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.K158_R159delins

c.474_475delinsCT

Surrounding Variants

11 papers

NM_000545.8

p.K158N

c.474G>C

1 paper

NM_000545.8

p.K158_R159insFs

c.474_475insA

11 papers

NM_000545.8

p.K158N

c.474G>T

1 paper

NM_000545.8

p.K158R

c.473A>G

1 paper

NM_000545.8

p.K158M

c.473A>T

1 paper

NM_000545.8

p.R159_A160delFs

c.476_479del4

1 paper

NM_000545.8

p.R159R

c.475C>A

2 papers

NM_000545.8

p.R159fs

c.475_476fs

33 papers

NM_000545.8

p.R159W

c.475C>T

2 papers

NM_000545.8

p.R159fs

c.475_476fs

3 papers

NM_000545.8

p.K158E

c.472A>G

2 papers

NM_000545.8

p.K158*

c.472A>T