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

1 paper

NM_000545.8

p.T485S

c.1453A>T

Surrounding Variants

1 paper

NM_000545.8

p.Q486delFs

c.1456delC

1 paper

NM_000545.8

p.T485S

c.1454C>G

1 paper

NM_000545.8

p.Q486E

c.1456C>G

7 papers

NM_000545.8

p.Q486*

c.1456C>T

1 paper

NM_000545.8

p.Q486fs

c.1456_1457fs

1 paper

NM_000545.8

p.V484fs

c.1450_1451fs

4 papers

NM_000545.8

p.H483R

c.1448A>G

1 paper

NM_000545.8

p.V484_M490delFs

c.1451_1470del20

93 papers

NM_000545.8

p.S487N

c.1460G>A

1 paper

NM_000545.8

p.P488delFs

c.1463delC

1 paper

NM_000545.8

p.S482N

c.1445G>A

2 papers

NM_000545.8

p.S482fs

c.1444_1445fs