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.H70R

c.209A>G

Surrounding Variants

1 paper

NM_001258355.2

p.H85Y

c.253C>T

1 paper

NM_175914.5

p.N69T

c.206A>C

1 paper

NM_175914.5

p.N69_H70insG

c.205_209ins3

1 paper

NM_175914.5

p.N69_M71delFs

c.207_211del5

1 paper

NM_175914.5

p.M71I

c.213G>A

1 paper

NM_175914.5

p.M71I

c.213G>C

1 paper

NM_175914.5

p.M71I

c.213G>T

1 paper

NM_175914.5

p.K68T

c.203A>C

1 paper

NM_175914.5

p.S73_C74del1

c.218_220delCCT

1 paper

NM_175914.5

p.S73A

c.217T>G

1 paper

NM_175914.5

p.S73insFs

c.218dupC

2 papers

NM_175914.5

p.S73delFs

c.219delC