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_000457.6

p.V251G

c.752T>G

Surrounding Variants

1 paper

NM_000457.6

p.V251fs

c.751_752fs

1 paper

NM_000457.6

p.V251delFs

c.752delT

1 paper

NM_175914.5

p.P230S

c.688C>T

1 paper

NM_175914.5

p.P230_R231delFs

c.690_691delTC

2 papers

NM_175914.5

p.I228V

c.682A>G

7 papers

NM_175914.5

p.R231W

c.691C>T

2 papers

NM_175914.5

p.Y227C

c.680A>G

2 papers

NM_175914.5

p.R231Q

c.692G>A

1 paper

NM_001287183.2

p.H229Y

c.685C>T

3 papers

NM_175914.5

p.D226N

c.676G>A

1 paper

NM_175914.5

p.C233S

c.697T>A

6 papers

NM_175914.5

p.C233R

c.697T>C