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.H49Y

c.145C>T

Surrounding Variants

1 paper

NM_175914.5

p.H49L

c.146A>T

1 paper

NM_175914.5

p.K48E

c.142A>G

2 papers

NM_175914.5

p.Y50H

c.148T>C

1 paper

NM_175914.5

p.G47G

c.141C>A

2 papers

NM_175914.5

p.Y50*

c.150C>A

1 paper

NM_000457.6

p.G73insFs

c.218dupG

2 papers

NM_175914.5

p.Y50*

c.150C>G

1 paper

NM_175914.5

p.G47A

c.140G>C

1 paper

NM_175914.5

p.G47V

c.140G>T

3 papers

NM_175914.5

p.G47S

c.139G>A

4 papers

NM_175914.5

p.G47R

c.139G>C

1 paper

NM_175914.5

p.G47fs

c.139_140fs