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.L139P

c.416T>C

Surrounding Variants

1 paper

NM_175914.5

p.L139M

c.415C>A

1 paper

NM_175914.5

p.S140S

c.420C>G

1 paper

NM_000457.6

p.V160I

c.478G>A

1 paper

NM_175914.5

p.R141R

c.421C>A

5 papers

NM_175914.5

p.R141*

c.421C>T

1 paper

NM_175914.5

p.E137G

c.410A>G

1 paper

NM_175914.5

p.E137V

c.410A>T

3 papers

NM_175914.5

p.R141Q

c.422G>A

1 paper

NM_175914.5

p.R141P

c.422G>C

1 paper

NM_175914.5

p.E137_V138insG

c.409_413ins3

2 papers

NM_175914.5

p.Q142*

c.424C>T

1 paper

NM_000457.6

p.A158_E159Fs

c.474_477delinsTGTFs