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

32 papers

NM_175914.5

p.R114W

c.340C>T

NM_000457.6

p.R136W

c.406C>T

Surrounding Variants

3 papers

NM_175914.5

p.R114Q

c.341G>A

1 paper

NM_175914.5

p.R114L

c.341G>T

1 paper

NM_175914.5

p.I115_T117del3

c.343_350del9

1 paper

NM_175914.5

p.I115insFs

c.344dupT

8 papers

NM_175914.5

p.R112Q

c.335G>A

3 papers

NM_175914.5

p.R112P

c.335G>C

4 papers

NM_175914.5

p.R112W

c.334C>T

1 paper

NM_175914.5

p.S116N

c.347G>A

1 paper

NM_175914.5

p.S116T

c.347G>C

1 paper

NM_175914.5

p.E111D

c.333G>T

2 papers

NM_175914.5

p.E111K

c.331G>A

1 paper

NM_175914.5

p.E111*

c.331G>T