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

39 papers

NM_000545.8

p.P112L

c.335C>T

Surrounding Variants

1 paper

NM_000545.8

p.P112S

c.334C>T

1 paper

NM_000545.8

p.P112fs

c.334_335fs

3 papers

NM_000545.8

p.P112P

c.336G>A

2 papers

NM_000545.8

p.D111G

c.332A>G

1 paper

NM_000545.8

p.P112delFs

c.335delC

7 papers

NM_000545.8

p.W113*

c.338G>A

1 paper

NM_000545.8

p.W113S

c.338G>C

3 papers

NM_000545.8

p.W113L

c.338G>T

6 papers

NM_000545.8

p.W113*

c.339G>A

13 papers

NM_000545.8

p.R114C

c.340C>T

1 paper

NM_000545.8

p.E110A

c.329A>C

12 papers

NM_000545.8

p.R114H

c.341G>A