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

2 papers

NM_175914.5

p.S21A

c.61T>G

Surrounding Variants

2 papers

NM_000457.6

p.S43*

c.128C>A

NM_175914.5

p.S21*

c.62C>A

3 papers

NM_175914.5

p.S21*

c.62C>G

NM_000457.6

p.S43*

c.128C>G

1 paper

NM_175914.5

p.S21L

c.62C>T

1 paper

NM_175914.5

p.S21_E22del2

c.61_65del6

4 papers

NM_000457.6

p.E44K

c.130G>A

NM_175914.5

p.E22K

c.64G>A

1 paper

NM_175914.5

p.E22G

c.65A>G

1 paper

NM_175914.5

p.S19S

c.57C>T

1 paper

NM_175914.5

p.G23delFs

c.68delG

1 paper

NM_175914.5

p.G23_T24insFs

c.69_70insG

1 paper

NM_175914.5

p.T18A

c.52A>G

1 paper

NM_000457.6

p.T46A

c.136A>G

1 paper

NM_175914.5

p.T24S

c.71C>G