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

4 papers

NM_000545.8

p.A29P

c.85G>C

Surrounding Variants

1 paper

NM_000545.8

p.Q28insFs

c.83_84insC

1 paper

NM_000545.8

p.Q28L

c.83A>T

1 paper

NM_000545.8

p.L30delFs

c.88delC

4 papers

NM_000545.8

p.Q28*

c.82C>T

1 paper

NM_000545.8

p.I27I

c.81C>T

1 paper

NM_000545.8

p.Q28del1

c.82_83delCAG

1 paper

NM_000545.8

p.L30P

c.89T>C

1 paper

NM_000545.8

p.L30_Y36delFs

c.90_108del19

1 paper

NM_000545.8

p.L30L

c.90G>C

1 paper

NM_000545.8

p.L30_Y36delins

c.90_108delinsT

1 paper

NM_000545.8

p.I27T

c.80T>C

1 paper

NM_000545.8

p.I27S

c.80T>G