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.T67I

c.200C>T

Surrounding Variants

5 papers

NM_000545.8

p.T67fs

c.199_200fs

1 paper

NM_000545.8

p.T67fs

c.199_200fs

1 paper

NM_000545.8

p.R68_G69del2

c.202_206del6

3 papers

NM_000545.8

p.R68W

c.202C>T

1 paper

NM_000545.8

p.G69delFs

c.206delG

1 paper

NM_000545.8

p.E66D

c.198G>C

1 paper

NM_000545.8

p.E66_T67insFs

c.198_199insA

1 paper

NM_000545.8

p.E66D

c.198G>T

1 paper

NM_000545.8

p.E66_R68delFs

c.198_202del5

1 paper

NM_000545.8

p.R68Q

c.203G>A

1 paper

NM_000545.8

p.R68insFs

c.203_204insC

2 papers

NM_000545.8

p.E66K

c.196G>A