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.E249K

c.745G>A

Surrounding Variants

1 paper

NM_175914.5

p.L250L

c.748C>T

2 papers

NM_175914.5

p.D248N

c.742G>A

2 papers

NM_175914.5

p.D248Y

c.742G>T

1 paper

NM_000457.6

p.L272P

c.815T>C

4 papers

NM_175914.5

p.L247P

c.740T>C

1 paper

NM_175914.5

p.V251M

c.751G>A

1 paper

NM_175914.5

p.V251fs

c.751_752fs

1 paper

NM_175914.5

p.V251delFs

c.752delT

2 papers

NM_175914.5

p.V251G

c.752T>G

1 paper

NM_175914.5

p.I246N

c.737T>A

1 paper

NM_175914.5

p.I246S

c.737T>G

1 paper

NM_175914.5

p.L252L

c.754C>T