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

2 papers

NM_000545.8

p.P475S

c.1423C>T

Surrounding Variants

1 paper

NM_000545.8

p.P475fs

c.1423_1424fs

1 paper

NM_000545.8

p.P475Q

c.1424C>A

11 papers

NM_000545.8

p.P475L

c.1424C>T

1 paper

NM_000545.8

p.P475insFs

c.1424_1425insC

1 paper

NM_000545.8

p.Q474_P475delins

c.1422_1424delinsCAG

4 papers

NM_000545.8

p.Q474R

c.1421A>G

1 paper

NM_000545.8

p.P475_L476insFs

c.1425_1426insC

1 paper

NM_000545.8

p.L476_P479del4

c.1426_1436del12

1 paper

NM_000545.8

p.Q474insFs

c.1421_1422insA

1 paper

NM_000545.8

p.Q474_P475insA

c.1420_1424ins3

4 papers

NM_000545.8

p.Q474*

c.1420C>T

2 papers

NM_000545.8

p.Q473*

c.1417C>T