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.G51S

c.151G>A

Surrounding Variants

1 paper

NM_000545.8

p.G51_G52insCG

c.151_155ins6

3 papers

NM_000545.8

p.C50C

c.150C>T

1 paper

NM_000545.8

p.G51V

c.152G>T

1 paper

NM_000545.8

p.G52insFs

c.155_156insG

1 paper

NM_000545.8

p.G51G

c.153C>T

1 paper

NM_000545.8

p.C50Y

c.149G>A

1 paper

NM_000545.8

p.G52S

c.154G>A

1 paper

NM_000545.8

p.G52insFs

c.154_155ins7

1 paper

NM_000545.8

p.G52D

c.155G>A

9 papers

NM_000545.8

p.G52A

c.155G>C

2 papers

NM_000545.8

p.G52delins

c.155_156delinsCT

2 papers

NM_000545.8

p.G53insFs

c.158_159ins7