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.P128A

c.382C>G

Surrounding Variants

4 papers

NM_175914.5

p.L127P

c.380T>C

1 paper

NM_175914.5

p.L127L

c.379C>T

1 paper

NM_175914.5

p.S129F

c.386C>T

1 paper

NM_175914.5

p.S125S

c.375C>T

1 paper

NM_175914.5

p.I130N

c.389T>A

2 papers

NM_175914.5

p.I130T

c.389T>C

1 paper

NM_000457.6

p.S147N

c.440G>A

1 paper

NM_175914.5

p.S125G

c.373A>G

1 paper

NM_175914.5

p.S125_V138del0

c.374_412del39

1 paper

NM_175914.5

p.N131S

c.392A>G

1 paper

NM_175914.5

p.D124V

c.371A>T

2 papers

NM_175914.5

p.D124N

c.370G>A