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.E235G

c.704A>G

Surrounding Variants

1 paper

NM_000545.8

p.E235K

c.703G>A

6 papers

NM_000545.8

p.E235Q

c.703G>C

1 paper

NM_000545.8

p.E235D

c.705G>C

1 paper

NM_000545.8

p.E235insFs

c.704_705insA

1 paper

NM_000545.8

p.E235D

c.705G>T

1 paper

NM_000545.8

p.C236fs

c.706_707fs

1 paper

NM_000545.8

p.E234_E235delFs

c.702_703delGG

1 paper

NM_000545.8

p.C236Y

c.707G>A

2 papers

NM_000545.8

p.C236*

c.708C>A

1 paper

NM_000545.8

p.N237insFs

c.710_711insA

1 paper

NM_000545.8

p.C236C

c.708C>T

6 papers

NM_000545.8

p.E234*

c.700G>T