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

1–12 of 976 variants

32 papers

NM_175914.5

p.R63W

c.187C>T

30 papers

NM_175914.5

p.R114W

c.340C>T

14 papers

NM_175914.5

p.S291insFs

c.872dupC

12 papers

NM_175914.5

p.E256K

c.766G>A

12 papers

NM_175914.5

p.I271fs

c.811_812fs

10 papers

NM_175914.5

p.T117I

c.350C>T

10 papers

NM_175914.5

p.D261N

c.781G>A

9 papers

NM_175914.5

p.G60D

c.179G>A

9 papers

NM_000457.6

p.R85W

c.253C>T

9 papers

NM_175914.5

p.R290C

c.868C>T

8 papers

NM_175914.5

p.R112Q

c.335G>A

8 papers

NM_175914.5

p.V242M

c.724G>A