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

2 papers

NM_000457.6

p.E285D

c.855G>C

NM_175914.5

p.E263D

c.789G>C

Surrounding Variants

2 papers

NM_000457.6

p.E285D

c.855G>T

NM_175914.5

p.E263D

c.789G>T

2 papers

NM_175914.5

p.Y264C

c.791A>G

2 papers

NM_175914.5

p.E263K

c.787G>A

NM_000457.6

p.E285K

c.853G>A

4 papers

NM_000457.6

p.E285Q

c.853G>C

NM_175914.5

p.E263Q

c.787G>C

2 papers

NM_000457.6

p.E285*

c.853G>T

NM_175914.5

p.E263*

c.787G>T

4 papers

NM_175914.5

p.N262S

c.785A>G

5 papers

NM_175914.5

p.A265T

c.793G>A

1 paper

NM_175914.5

p.A265S

c.793G>T

1 paper

NM_175914.5

p.Y266_P275del10

c.796_824del30

10 papers

NM_175914.5

p.D261N

c.781G>A

2 papers

NM_175914.5

p.D261H

c.781G>C

1 paper

NM_000457.6

p.Y288_L289insFs

c.864_865insG