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.P253insFs

c.759dupC

Surrounding Variants

2 papers

NM_000457.6

p.P275S

c.823C>T

NM_175914.5

p.P253S

c.757C>T

1 paper

NM_175914.5

p.L252L

c.754C>T

1 paper

NM_001287183.2

p.F251delFs

c.752delT

1 paper

NM_175914.5

p.F254L

c.760T>C

2 papers

NM_175914.5

p.V251G

c.752T>G

1 paper

NM_175914.5

p.V251M

c.751G>A

1 paper

NM_175914.5

p.V251fs

c.751_752fs

1 paper

NM_175914.5

p.V251delFs

c.752delT

1 paper

NM_175914.5

p.F254L

c.762C>A

1 paper

NM_175914.5

p.F254L

c.762C>G

1 paper

NM_175914.5

p.Q255_E256insFs

c.764_767dup4

3 papers

NM_175914.5

p.Q255*

c.763C>T

NM_000457.6

p.Q277*

c.829C>T