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.Q444H

c.1332G>T

Surrounding Variants

4 papers

NM_000545.8

p.Q444H

c.1332G>C

2 papers

NM_000545.8

p.S445fs

c.1333_1334fs

6 papers

NM_000545.8

p.Q444fs

c.1330_1331fs

2 papers

NM_000545.8

p.Q444*

c.1330C>T

2 papers

NM_000545.8

p.S445delFs

c.1333_1334delAG

2 papers

NM_000545.8

p.Q444fs

c.1330_1331fs

2 papers

NM_000545.8

p.V446M

c.1336G>A

1 paper

NM_000545.8

p.A443T

c.1327G>A

2 papers

NM_000545.8

p.A443fs

c.1327_1328fs

7 papers

NM_000545.8

p.Q444delFs

c.1330_1331delCA

1 paper

NM_000545.8

p.A443delFs

c.1327delG

1 paper

NM_000545.8

p.P447S

c.1339C>T