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.T457A

c.1369A>G

Surrounding Variants

3 papers

NM_000545.8

p.T457I

c.1370C>T

1 paper

NM_000545.8

p.T457_P461ins1

c.1369_1383dup15

2 papers

NM_000545.8

p.T457_V462insFs

c.1369_1384dup16

1 paper

NM_000545.8

p.L459delFs

c.1375delC

2 papers

NM_000545.8

p.S455fs

c.1363_1364fs

1 paper

NM_000545.8

p.L459fs

c.1375_1376fs

23 papers

NM_000545.8

p.L459L

c.1375C>T

1 paper

NM_000545.8

p.L459_Q460Fs

c.1375_1379delinsTTGCFs

3 papers

NM_000545.8

p.L459L

c.1377G>A

1 paper

NM_000545.8

p.L459L

c.1377G>C

2 papers

NM_000545.8

p.S454insFs

c.1362dupC

1 paper

NM_000545.8

p.S454fs

c.1360_1361fs