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

5 papers

NM_000545.8

p.G47E

c.140G>A

Surrounding Variants

1 paper

NM_000545.8

p.G47V

c.140G>T

7 papers

NM_000545.8

p.G47R

c.139G>A

1 paper

NM_000545.8

p.G47G

c.141G>A

7 papers

NM_000545.8

p.G47R

c.139G>C

21 papers

NM_000545.8

p.E48K

c.142G>A

1 paper

NM_000545.8

p.K46K

c.138G>A

1 paper

NM_000545.8

p.K46N

c.138G>C

3 papers

NM_000545.8

p.E48fs

c.142_143fs

1 paper

NM_000545.8

p.K46N

c.138G>T

3 papers

NM_000545.8

p.E48fs

c.142_143fs

1 paper

NM_000545.8

p.K46T

c.137A>C

1 paper

NM_000545.8

p.K46R

c.137A>G