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

45 papers

NM_000545.8

p.R271W

c.811C>T

Surrounding Variants

1 paper

NM_000545.8

p.R271ins1

c.811_812insCGG

2 papers

NM_000545.8

p.R271fs

c.811_812fs

10 papers

NM_000545.8

p.R271G

c.811C>G

1 paper

NM_000545.8

p.R271_K273delFs

c.811_818del8

26 papers

NM_000545.8

p.R271Q

c.812G>A

1 paper

NM_000545.8

p.N270T

c.809A>C

3 papers

NM_000545.8

p.N270S

c.809A>G

1 paper

NM_000545.8

p.N270D

c.808A>G

8 papers

NM_000545.8

p.R272S

c.814C>A

1 paper

NM_000545.8

p.R272G

c.814C>G

29 papers

NM_000545.8

p.R272C

c.814C>T

63 papers

NM_000545.8

p.R272H

c.815G>A