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.P129L

c.386C>T

Surrounding Variants

14 papers

NM_000545.8

p.P129T

c.385C>A

1 paper

NM_000545.8

p.P129A

c.385C>G

1 paper

NM_000545.8

p.P129S

c.385C>T

1 paper

NM_000545.8

p.Q130K

c.388C>A

1 paper

NM_000545.8

p.Q130E

c.388C>G

3 papers

NM_000545.8

p.Q130*

c.388C>T

10 papers

NM_000545.8

p.I128N

c.383T>A

2 papers

NM_000545.8

p.I128T

c.383T>C

2 papers

NM_000545.8

p.I128V

c.382A>G

5 papers

NM_000545.8

p.Q130H

c.390G>C

5 papers

NM_000545.8

p.Q130H

c.390G>T

2 papers

NM_000545.8

p.R131R

c.391C>A