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

14 papers

NM_000545.8

p.W206C

c.618G>T

Surrounding Variants

9 papers

NM_000545.8

p.W206*

c.618G>A

15 papers

NM_000545.8

p.W206C

c.618G>C

8 papers

NM_000545.8

p.W206*

c.617G>A

1 paper

NM_000545.8

p.G207fs

c.619_620fs

19 papers

NM_000545.8

p.W206L

c.617G>T

20 papers

NM_000545.8

p.G207D

c.620G>A

1 paper

NM_000545.8

p.S210_Q212insFs

c.628_635dup8

1 paper

NM_000545.8

p.W206R

c.616T>A

1 paper

NM_000545.8

p.W206R

c.616T>C

1 paper

NM_000545.8

p.G207insFs

c.620_621insG

1 paper

NM_000545.8

p.W206_A209insFs

c.617_626dup10

1 paper

NM_000545.8

p.W206fs

c.616_617fs