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.A132T

c.394G>A

Surrounding Variants

1 paper

NM_175914.5

p.N131S

c.392A>G

2 papers

NM_175914.5

p.L133F

c.397C>T

1 paper

NM_175914.5

p.I130N

c.389T>A

2 papers

NM_175914.5

p.I130T

c.389T>C

1 paper

NM_175914.5

p.L134L

c.400C>T

2 papers

NM_175914.5

p.L134P

c.401T>C

1 paper

NM_175914.5

p.S129F

c.386C>T

2 papers

NM_175914.5

p.Q135delFs

c.404delA

1 paper

NM_175914.5

p.Q135R

c.404A>G

1 paper

NM_175914.5

p.P128A

c.382C>G

2 papers

NM_175914.5

p.A136V

c.407C>T

NM_000457.6

p.A158V

c.473C>T

1 paper

NM_000457.6

p.A158_E159Fs

c.474_477delinsTGTFs