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.I333S

c.998T>G

Surrounding Variants

1 paper

NM_175914.5

p.I333V

c.997A>G

1 paper

NM_175914.5

p.I333I

c.999C>A

1 paper

NM_175914.5

p.Q334_I336delFs

c.1002_1006del5

3 papers

NM_175914.5

p.Q334*

c.1000C>T

2 papers

NM_175914.5

p.Q332*

c.994C>T

2 papers

NM_175914.5

p.E331K

c.991G>A

1 paper

NM_001287183.2

p.E328_K334delFs

c.982_1001del20

2 papers

NM_175914.5

p.I330T

c.989T>C

2 papers

NM_175914.5

p.I336T

c.1007T>C

1 paper

NM_175914.5

p.I336insFs

c.1007_1008insC

1 paper

NM_175914.5

p.M329K

c.986T>A

1 paper

NM_175914.5

p.Q328*

c.982C>T