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

6 papers

NM_000545.8

p.E234*

c.700G>T

Surrounding Variants

1 paper

NM_000545.8

p.E234_E235delFs

c.702_703delGG

1 paper

NM_000545.8

p.V233V

c.699G>A

1 paper

NM_000545.8

p.E235K

c.703G>A

7 papers

NM_000545.8

p.V233L

c.697G>C

6 papers

NM_000545.8

p.E235Q

c.703G>C

1 paper

NM_000545.8

p.E235insFs

c.704_705insA

1 paper

NM_000545.8

p.V233fs

c.697_698fs

7 papers

NM_000545.8

p.V233L

c.697G>T

2 papers

NM_000545.8

p.E235G

c.704A>G

1 paper

NM_000545.8

p.V233del1

c.697_698delGTG

1 paper

NM_000545.8

p.E235D

c.705G>C

1 paper

NM_000545.8

p.E235D

c.705G>T