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

3 papers

NM_000545.8

p.S22R

c.66C>G

Surrounding Variants

2 papers

NM_000545.8

p.S22R

c.66C>A

1 paper

NM_000545.8

p.K23delFs

c.68_69delAA

1 paper

NM_000545.8

p.K23Q

c.67A>C

1 paper

NM_000545.8

p.S22T

c.65G>C

1 paper

NM_000545.8

p.S22insFs

c.64_65insC

1 paper

NM_000545.8

p.S22insFs

c.65dupG

2 papers

NM_000545.8

p.S22R

c.64A>C

1 paper

NM_000545.8

p.K23R

c.68A>G

1 paper

NM_000545.8

p.S22Fs

c.64delinsGCFs

1 paper

NM_000545.8

p.E24delFs

c.70_71delGA

1 paper

NM_000545.8

p.E24_A29delFs

c.70_85del16

1 paper

NM_000545.8

p.L21L

c.63G>T