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.D274V

c.821A>T

Surrounding Variants

1 paper

NM_175914.5

p.D274G

c.821A>G

2 papers

NM_175914.5

p.D274E

c.822C>A

2 papers

NM_175914.5

p.D274E

c.822C>G

1 paper

NM_175914.5

p.P275fs

c.823_824fs

7 papers

NM_175914.5

p.P275S

c.823C>T

1 paper

NM_175914.5

p.P275delFs

c.825delA

2 papers

NM_175914.5

p.F273_D274del1

c.818_820delTTG

1 paper

NM_175914.5

p.F273insFs

c.817dupT

1 paper

NM_175914.5

p.D276N

c.826G>A

1 paper

NM_175914.5

p.D276Splc

c.826+1G>T

2 papers

NM_175914.5

p.I271I

c.813C>T

12 papers

NM_175914.5

p.I271fs

c.811_812fs