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.R245H

c.734G>A

Surrounding Variants

1 paper

NM_175914.5

p.R245P

c.734G>C

1 paper

NM_175914.5

p.R245insFs

c.735dupC

1 paper

NM_175914.5

p.R245L

c.734G>T

3 papers

NM_175914.5

p.R245S

c.733C>A

1 paper

NM_175914.5

p.R245G

c.733C>G

5 papers

NM_175914.5

p.R245C

c.733C>T

1 paper

NM_175914.5

p.I246N

c.737T>A

1 paper

NM_175914.5

p.I244T

c.731T>C

1 paper

NM_175914.5

p.I246S

c.737T>G

4 papers

NM_175914.5

p.L247P

c.740T>C

1 paper

NM_175914.5

p.S243_I244insAG

c.727_731ins6

2 papers

NM_175914.5

p.D248N

c.742G>A