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

49 papers

NM_000545.8

p.G31D

c.92G>A

Surrounding Variants

1 paper

NM_000545.8

p.G31A

c.92G>C

1 paper

NM_000545.8

p.G31C

c.91G>T

3 papers

NM_000545.8

p.E32K

c.94G>A

1 paper

NM_000545.8

p.L30L

c.90G>C

8 papers

NM_000545.8

p.E32*

c.94G>T

1 paper

NM_000545.8

p.L30_Y36delins

c.90_108delinsT

1 paper

NM_000545.8

p.E32A

c.95A>C

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.E32E

c.96G>A

1 paper

NM_000545.8

p.E32D

c.96G>T

1 paper

NM_000545.8

p.L30delFs

c.88delC