Varaico: Literature-Extracted Genetic Variants

HNF4A

904 papers

RefSeq Summary

The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 a...

Pfam Domains

zf-C4aa 58–127UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 172–361UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

hepatocyte nuclear factor 4 alpha

HGNC Previous Symbols

TCF14; MODY; MODY1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_175914.5

p.S121G

c.361A>G

Surrounding Variants

1 paper

NM_000457.6

p.S142P

c.424T>C

1 paper

NM_175914.5

p.Y122insFs

c.364_365insG

1 paper

NM_175914.5

p.Y122fs

c.364_365fs

5 papers

NM_175914.5

p.Y122C

c.365A>G

1 paper

NM_175914.5

p.E123_D124insFs

c.369_370dupGG

1 paper

NM_175914.5

p.E123G

c.368A>G

3 papers

NM_175914.5

p.R118Q

c.353G>A

NM_000457.6

p.R140Q

c.419G>A

2 papers

NM_175914.5

p.R118G

c.352C>G

6 papers

NM_000457.6

p.R140*

c.418C>T

NM_175914.5

p.R118*

c.352C>T

2 papers

NM_175914.5

p.D124N

c.370G>A

1 paper

NM_175914.5

p.D124H

c.370G>C

1 paper

NM_175914.5

p.D124V

c.371A>T