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.Y300*

c.900C>A

Surrounding Variants

2 papers

NM_000457.6

p.I323F

c.967A>T

NM_175914.5

p.I301F

c.901A>T

1 paper

NM_175914.5

p.Y300F

c.899A>T

3 papers

NM_175914.5

p.D299H

c.895G>C

1 paper

NM_000457.6

p.D321fs

c.961_962fs

1 paper

NM_175914.5

p.R304_Q305del2

c.910_914del6

1 paper

NM_175914.5

p.R304H

c.911G>A

1 paper

NM_000457.6

p.L319del1

c.955_956delTTG

1 paper

NM_175914.5

p.Q305insFs

c.914dupA

1 paper

NM_175914.5

p.Q305*

c.913C>T

1 paper

NM_175914.5

p.S296N

c.887G>A

1 paper

NM_175914.5

p.S296R

c.886A>C

1 paper

NM_175914.5

p.S296fs

c.886_887fs