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.L26F

c.76C>T

Surrounding Variants

1 paper

NM_175914.5

p.N25K

c.75C>A

1 paper

NM_175914.5

p.N25K

c.75C>G

1 paper

NM_175914.5

p.N25S

c.74A>G

1 paper

NM_175914.5

p.L26delFs

c.76delC

1 paper

NM_175914.5

p.N27H

c.79A>C

1 paper

NM_175914.5

p.T24T

c.72C>G

1 paper

NM_175914.5

p.T24S

c.71C>G

2 papers

NM_175914.5

p.T24I

c.71C>T

1 paper

NM_000457.6

p.T46A

c.136A>G

1 paper

NM_175914.5

p.A28T

c.82G>A

1 paper

NM_175914.5

p.G23_T24insFs

c.69_70insG

1 paper

NM_000457.6

p.A50V

c.149C>T