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

84 papers

NM_000545.8

p.P447L

c.1340C>T

Surrounding Variants

1 paper

NM_000545.8

p.P447R

c.1340C>G

1 paper

NM_000545.8

p.P447S

c.1339C>T

1 paper

NM_000545.8

p.P447_V448ins4

c.1341_1342ins12

1 paper

NM_000545.8

p.V448A

c.1343T>C

2 papers

NM_000545.8

p.V446M

c.1336G>A

1 paper

NM_000545.8

p.I449insFs

c.1345_1346insG

1 paper

NM_000545.8

p.I449fs

c.1345_1346fs

2 papers

NM_000545.8

p.S445fs

c.1333_1334fs

3 papers

NM_000545.8

p.N450insFs

c.1349dupA

2 papers

NM_000545.8

p.N450fs

c.1348_1349fs

4 papers

NM_000545.8

p.Q444H

c.1332G>C

4 papers

NM_000545.8

p.Q444H

c.1332G>T