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.L348F

c.1044G>C

Surrounding Variants

1 paper

NM_175914.5

p.L348F

c.1044G>T

2 papers

NM_175914.5

p.Q349*

c.1045C>T

1 paper

NM_175914.5

p.L348W

c.1043T>G

1 paper

NM_175914.5

p.L347P

c.1040T>C

1 paper

NM_175914.5

p.L347L

c.1039C>T

1 paper

NM_175914.5

p.M351L

c.1051A>T

3 papers

NM_000457.6

p.M373R

c.1118T>G

NM_175914.5

p.M351R

c.1052T>G

2 papers

NM_175914.5

p.D345H

c.1033G>C

4 papers

NM_175914.5

p.D345Y

c.1033G>T

NM_000457.6

p.D367Y

c.1099G>T

1 paper

NM_175914.5

p.L352R

c.1055T>G

1 paper

NM_175914.5

p.I344_D345ins3

c.1032_1033ins9

1 paper

NM_175914.5

p.L353insFs

c.1059dupG