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.Q258*

c.772C>T

Surrounding Variants

4 papers

NM_175914.5

p.E256D

c.768G>C

4 papers

NM_175914.5

p.E256D

c.768G>T

1 paper

NM_175914.5

p.I259N

c.776T>A

3 papers

NM_175914.5

p.E256A

c.767A>C

1 paper

NM_175914.5

p.I259I

c.777C>A

1 paper

NM_000457.6

p.I281I

c.843C>T

12 papers

NM_175914.5

p.E256K

c.766G>A

3 papers

NM_175914.5

p.D260N

c.778G>A

NM_000457.6

p.D282N

c.844G>A

1 paper

NM_175914.5

p.E256Q

c.766G>C

1 paper

NM_175914.5

p.E256delFs

c.766_767delGA

1 paper

NM_175914.5

p.Q255L

c.764A>T

1 paper

NM_175914.5

p.E256_L257del2

c.766_770del6