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

2 papers

NM_000545.8

p.G53R

c.157G>C

Surrounding Variants

1 paper

NM_000545.8

p.G53S

c.157G>A

2 papers

NM_000545.8

p.G53insFs

c.158_159ins7

1 paper

NM_000545.8

p.G52G

c.156C>T

1 paper

NM_000545.8

p.G53_E56delFs

c.157_166del10

1 paper

NM_000545.8

p.G53D

c.158G>A

1 paper

NM_000545.8

p.G52D

c.155G>A

9 papers

NM_000545.8

p.G52A

c.155G>C

2 papers

NM_000545.8

p.G52delins

c.155_156delinsCT

2 papers

NM_000545.8

p.R54insFs

c.160dupC

1 paper

NM_000545.8

p.R54ins1

c.160_161insTGG

1 paper

NM_000545.8

p.R54insFs

c.160_161ins7

20 papers

NM_000545.8

p.R54*

c.160C>T