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.I336insFs

c.1007_1008insC

Surrounding Variants

2 papers

NM_175914.5

p.I336T

c.1007T>C

3 papers

NM_175914.5

p.Q334*

c.1000C>T

1 paper

NM_175914.5

p.I333I

c.999C>A

1 paper

NM_175914.5

p.Q334_I336delFs

c.1002_1006del5

1 paper

NM_175914.5

p.I333S

c.998T>G

1 paper

NM_175914.5

p.I333V

c.997A>G

2 papers

NM_175914.5

p.G340D

c.1019G>A

3 papers

NM_175914.5

p.G340A

c.1019G>C

2 papers

NM_175914.5

p.Q332*

c.994C>T

1 paper

NM_175914.5

p.M341_L353del13

c.1021_1058del39

1 paper

NM_175914.5

p.M341T

c.1022T>C

2 papers

NM_175914.5

p.E331K

c.991G>A