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.S240G

c.718A>G

Surrounding Variants

1 paper

NM_175914.5

p.M239I

c.717G>A

1 paper

NM_175914.5

p.M239I

c.717G>C

1 paper

NM_175914.5

p.M239I

c.717G>T

2 papers

NM_175914.5

p.R241G

c.721C>G

1 paper

NM_175914.5

p.R241W

c.721C>T

2 papers

NM_175914.5

p.V242delFs

c.724delG

1 paper

NM_000457.6

p.R263Q

c.788G>A

8 papers

NM_175914.5

p.V242M

c.724G>A

1 paper

NM_175914.5

p.V242L

c.724G>C

2 papers

NM_175914.5

p.V242fs

c.724_725fs

2 papers

NM_175914.5

p.V242L

c.724G>T

1 paper

NM_175914.5

p.E238delFs

c.713delA