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.L57delFs

c.169delC

Surrounding Variants

1 paper

NM_000545.8

p.L57M

c.169C>A

1 paper

NM_000545.8

p.L57fs

c.169_170fs

4 papers

NM_000545.8

p.L57L

c.169C>T

1 paper

NM_000545.8

p.E56*

c.166G>T

1 paper

NM_000545.8

p.L57P

c.170T>C

1 paper

NM_000545.8

p.L57delFs

c.171delG

1 paper

NM_000545.8

p.G55A

c.164G>C

2 papers

NM_000545.8

p.G55R

c.163G>A

1 paper

NM_000545.8

p.G55R

c.163G>C

4 papers

NM_000545.8

p.G55fs

c.163_164fs

2 papers

NM_000545.8

p.A58A

c.174T>G

1 paper

NM_000545.8

p.E59_L64delFs

c.175_190del16