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.N149K

c.447C>G

Surrounding Variants

1 paper

NM_000545.8

p.N149K

c.447C>A

1 paper

NM_000545.8

p.N149insFs

c.447dupC

2 papers

NM_000545.8

p.K150E

c.448A>G

1 paper

NM_000545.8

p.K150fs

c.448_449fs

1 paper

NM_000545.8

p.K150R

c.449A>G

2 papers

NM_000545.8

p.N149Y

c.445A>T

1 paper

NM_000545.8

p.K150M

c.449A>T

1 paper

NM_000545.8

p.K150K

c.450G>A

4 papers

NM_000545.8

p.K150N

c.450G>C

3 papers

NM_000545.8

p.K150N

c.450G>T

3 papers

NM_000545.8

p.G151S

c.451G>A

1 paper

NM_000545.8

p.L148P

c.443T>C