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.C58C

c.174C>T

Surrounding Variants

1 paper

NM_175914.5

p.K59_R64delFs

c.175_190del16

2 papers

NM_000457.6

p.C80Y

c.239G>A

1 paper

NM_175914.5

p.K59R

c.176A>G

2 papers

NM_175914.5

p.K59M

c.176A>T

1 paper

NM_001258355.2

p.G72G

c.216C>A

1 paper

NM_175914.5

p.K59N

c.177G>C

1 paper

NM_175914.5

p.G60S

c.178G>A

9 papers

NM_175914.5

p.G60D

c.179G>A

2 papers

NM_175914.5

p.G60V

c.179G>T

NM_000457.6

p.G82V

c.245G>T

1 paper

NM_000457.6

p.G79C

c.235G>T

1 paper

NM_175914.5

p.G60G

c.180C>A

1 paper

NM_175914.5

p.G60G

c.180C>T