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.C241_I242insFs

c.722_725dup4

Surrounding Variants

1 paper

NM_000545.8

p.E240V

c.719A>T

2 papers

NM_000545.8

p.E240K

c.718G>A

5 papers

NM_000545.8

p.E240Q

c.718G>C

1 paper

NM_000545.8

p.A239A

c.717G>A

9 papers

NM_000545.8

p.C241R

c.721T>C

15 papers

NM_000545.8

p.C241G

c.721T>G

16 papers

NM_000545.8

p.A239V

c.716C>T

2 papers

NM_000545.8

p.C241Y

c.722G>A

2 papers

NM_000545.8

p.C241*

c.723C>A

2 papers

NM_000545.8

p.A239T

c.715G>A

1 paper

NM_000545.8

p.A239P

c.715G>C

1 paper

NM_000545.8

p.A239delFs

c.716delC