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.L353insFs

c.1059dupG

Surrounding Variants

1 paper

NM_175914.5

p.G354delFs

c.1061delG

1 paper

NM_175914.5

p.G354fs

c.1060_1061fs

1 paper

NM_175914.5

p.G354*

c.1060G>T

1 paper

NM_175914.5

p.L352R

c.1055T>G

3 papers

NM_175914.5

p.G355R

c.1063G>A

1 paper

NM_175914.5

p.G355R

c.1063G>C

2 papers

NM_175914.5

p.G355Splc

c.1063+1G>A

3 papers

NM_000457.6

p.M373R

c.1118T>G

NM_175914.5

p.M351R

c.1052T>G

1 paper

NM_175914.5

p.M351L

c.1051A>T

2 papers

NM_175914.5

p.G355Splc

c.1063+2T>C

1 paper

NM_001030004.3

p.P356delins

c.1066_1067delinsAG

1 paper

NM_001030004.3

p.P356R

c.1067C>G