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

5 papers

NM_000545.8

p.W165*

c.494G>A

Surrounding Variants

1 paper

NM_000545.8

p.W165S

c.494G>C

1 paper

NM_000545.8

p.W165L

c.494G>T

1 paper

NM_000545.8

p.W165_Q176delFs

c.495_526del32

4 papers

NM_000545.8

p.W165*

c.495G>A

5 papers

NM_000545.8

p.W165C

c.495G>C

4 papers

NM_000545.8

p.W165C

c.495G>T

10 papers

NM_000545.8

p.W165R

c.493T>A

10 papers

NM_000545.8

p.W165R

c.493T>C

1 paper

NM_000545.8

p.W165fs

c.493_494fs

2 papers

NM_000545.8

p.T164T

c.492C>G

1 paper

NM_000545.8

p.W165delFs

c.493delT

1 paper

NM_000545.8

p.Y166N

c.496T>A